rs869320711
|
1.000 |
|
4 |
106233045 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
|
0.800 |
1.000 |
3 |
2015 |
2016 |
rs1057518332
|
1.000 |
|
4 |
106230366 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
|
0.700 |
1.000 |
3 |
2013 |
2016 |
rs575822089
|
0.882 |
0.120 |
4 |
106262103 |
stop gained |
G/A
|
snv
|
7.7E-05
|
2.2E-04
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs869320769
|
1.000 |
|
4 |
106247238 |
frameshift variant |
-/AT
|
delins
|
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Byzanthine arch palate
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Fatigue
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Abnormal delivery
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Feeding difficulties in infancy
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Narrow forehead
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Premature Birth
|
Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Neonatal respiratory distress
|
Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Low APGAR score
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Decreased tendon reflex
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Generalized muscle weakness
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Acid reflux
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Cerebral white matter atrophy
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Breech Presentation
|
Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Nystagmus
|
Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Prominent nasal bridge
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Poor suck
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Overriding toe
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Congenital absence of uvula
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Hypoplasia of corpus callosum
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Tortuous cerebral arteries
|
|
0.700 |
|
0 |
|
|