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 |
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 |
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
|
|
|
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
|
|
|
Low APGAR score
|
|
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
|
|
|
Prominent nasal bridge
|
|
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
|
|
|
Tortuous cerebral arteries
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Primary Caesarian section
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
obsolete Rod-cone dystrophy
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Central hypotonia
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Dilated ventricles (finding)
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
EEG with generalized slow activity
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Profound global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Tented upper lip vermilion
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Secondary Caesarian section
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant |
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins
|
|
|
Bifid uvula
|
|
0.700 |
|
0 |
|
|
rs1560929669
|
1.000 |
|
4 |
106262116 |
frameshift variant |
ATTA/-
|
del
|
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
|
0.700 |
|
0 |
|
|
rs374319146
|
0.851 |
0.080 |
4 |
106194717 |
splice donor variant |
C/A;T
|
snv
|
4.3E-06;
8.7E-06
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|