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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
X | 103786627 | frameshift variant | AG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 12 | 1989 | 2016 | ||||||||||
|
1.000 | X | 103776998 | start lost | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | X | 103775144 | intron variant | G/A | snv | 0.20 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | X | 103776997 | start lost | T/C;G | snv |
|
0.700 | 1.000 | 12 | 1989 | 2016 | |||||||||
|
0.925 | 0.080 | X | 103776997 | start lost | T/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 12 | 1989 | 2016 | ||||||||
|
1.000 | 0.080 | X | 103786691 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 10 | 1994 | 2014 | ||||||||
|
1.000 | 0.080 | X | 103787904 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 10 | 1994 | 2014 | ||||||||
|
1.000 | 0.080 | X | 103786661 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 10 | 1994 | 2014 | ||||||||
|
1.000 | 0.080 | X | 103786726 | splice acceptor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 1995 | 2006 | ||||||||
|
1.000 | 0.080 | X | 103786682 | missense variant | C/T | snv |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | X | 103786638 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | X | 103786638 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 103786638 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 103789346 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 103787853 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 103786688 | frameshift variant | TGTC/AGT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 103790581 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | X | 103776997 | start lost | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 103788460 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1989 | 2000 | ||||||||
|
1.000 | 0.120 | X | 103787831 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1989 | 2000 | ||||||||
|
1.000 | 0.120 | X | 103787811 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1989 | 2000 | ||||||||
|
1.000 | 0.120 | X | 103788469 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1989 | 2000 | ||||||||
|
1.000 | 0.120 | X | 103787888 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1989 | 2000 | ||||||||
|
1.000 | 0.120 | X | 103788485 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1989 | 2000 | ||||||||
|
1.000 | 0.120 | X | 103787951 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 20 | 1989 | 2000 |