rs199470477
|
1.000 |
0.320 |
10 |
75029027 |
frameshift variant |
CT/-
|
delins
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
8 |
2011 |
2018 |
rs199470477
|
1.000 |
0.320 |
10 |
75029027 |
frameshift variant |
CT/-
|
delins
|
|
|
Genitopatellar Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
3 |
2011 |
2017 |
rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Muscle Spasticity
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Bulbous nose
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Agenesis of corpus callosum
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Cryptorchidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Blepharophimosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Hypothyroidism
|
Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Generalized hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1564632652
|
1.000 |
0.320 |
10 |
75030114 |
stop gained |
C/T
|
snv
|
|
|
Genitopatellar Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs199470482
|
0.925 |
0.440 |
10 |
75030015 |
frameshift variant |
-/TGCTGCAGCA
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1554843829
|
1.000 |
0.360 |
10 |
75022074 |
frameshift variant |
A/-
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Blepharophimosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Congenital hypoplasia of kidney
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Telecanthus
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Hypoplasia of the maxilla
|
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Poor speech
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Dysmorphic facies
|
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Vesico-Ureteral Reflux
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Congenital Epicanthus
|
|
0.700 |
|
0 |
|
|
rs1554844486
|
0.827 |
0.160 |
10 |
75024984 |
frameshift variant |
GGGT/-
|
del
|
|
|
Bulbous nose
|
|
0.700 |
|
0 |
|
|
rs1554845880
|
1.000 |
0.360 |
10 |
75029376 |
frameshift variant |
-/GA
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|