rs886039860
|
1.000 |
0.080 |
X |
13744424 |
start lost |
T/C;G
|
snv
|
1.1E-05
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
5 |
2001 |
2013 |
rs1555907034
|
|
|
X |
13760532 |
frameshift variant |
T/-
|
delins
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
14 |
2000 |
2016 |
rs1555907034
|
|
|
X |
13760532 |
frameshift variant |
T/-
|
delins
|
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
14 |
2000 |
2016 |
rs1569102786
|
1.000 |
0.160 |
X |
13736679 |
splice donor variant |
G/T
|
snv
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs312262818
|
0.925 |
0.200 |
X |
13736626 |
missense variant |
A/G;T
|
snv
|
1.1E-05
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2008 |
2017 |
rs312262830
|
0.882 |
0.160 |
X |
13739017 |
frameshift variant |
GAAA/-
|
delins
|
|
|
JOUBERT SYNDROME 10 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2008 |
2014 |
rs312262830
|
0.882 |
0.160 |
X |
13739017 |
frameshift variant |
GAAA/-
|
delins
|
|
|
Abnormality of brain morphology
|
|
0.700 |
1.000 |
2 |
2008 |
2014 |
rs797044945
|
1.000 |
0.160 |
X |
13768080 |
frameshift variant |
TAAAA/-
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs1569128307
|
1.000 |
0.160 |
X |
13749512 |
frameshift variant |
AA/-
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs312262830
|
0.882 |
0.160 |
X |
13739017 |
frameshift variant |
GAAA/-
|
delins
|
|
|
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs312262830
|
0.882 |
0.160 |
X |
13739017 |
frameshift variant |
GAAA/-
|
delins
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs312262845
|
0.925 |
0.200 |
X |
13746827 |
frameshift variant |
AA/-;A;AAA
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs312262894
|
1.000 |
0.120 |
X |
13768063 |
frameshift variant |
G/-
|
del
|
|
|
JOUBERT SYNDROME 10 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225211
|
1.000 |
0.120 |
X |
13736643 |
missense variant |
G/T
|
snv
|
|
|
JOUBERT SYNDROME 10 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225212
|
1.000 |
0.120 |
X |
13767195 |
stop gained |
C/T
|
snv
|
|
|
JOUBERT SYNDROME 10 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225213
|
1.000 |
0.120 |
X |
13736515 |
missense variant |
A/G
|
snv
|
|
9.5E-06
|
JOUBERT SYNDROME 10 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1060500123
|
0.925 |
0.200 |
X |
13767252 |
stop gained |
C/T
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1060500123
|
0.925 |
0.200 |
X |
13767252 |
stop gained |
C/T
|
snv
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs122460150
|
1.000 |
0.080 |
X |
13756659 |
missense variant |
A/C
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555900675
|
1.000 |
0.080 |
X |
13736476 |
splice acceptor variant |
A/-
|
del
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555900734
|
1.000 |
0.080 |
X |
13736586 |
protein altering variant |
-/TAAAAGAGCTGC
|
ins
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555901137
|
1.000 |
0.080 |
X |
13738877 |
missense variant |
T/A
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555901146
|
1.000 |
0.080 |
X |
13738895 |
frameshift variant |
C/-
|
delins
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555901169
|
1.000 |
0.080 |
X |
13739033 |
splice donor variant |
G/T
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555902640
|
0.925 |
0.200 |
X |
13746360 |
stop gained |
-/A
|
delins
|
|
|
Familial aplasia of the vermis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|