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 |
rs312262840
|
1.000 |
0.080 |
X |
13746412 |
frameshift variant |
GA/-
|
delins
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs886039861
|
1.000 |
0.080 |
X |
13744507 |
frameshift variant |
GA/-
|
delins
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
|
|
rs1555902866
|
0.925 |
0.200 |
X |
13746873 |
stop gained |
G/T
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555902866
|
0.925 |
0.200 |
X |
13746873 |
stop gained |
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 |
|
0 |
|
|
rs1569164733
|
1.000 |
0.160 |
X |
13768093 |
stop gained |
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 |
|
0 |
|
|
rs1569164733
|
1.000 |
0.160 |
X |
13768093 |
stop gained |
G/T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1569164829
|
1.000 |
0.160 |
X |
13768111 |
stop gained |
G/T
|
snv
|
|
|
Ciliary Motility Disorders
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1569164829
|
1.000 |
0.160 |
X |
13768111 |
stop gained |
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 |
|
0 |
|
|
rs312262892
|
1.000 |
0.080 |
X |
13761084 |
splice acceptor variant |
G/T
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs886039857
|
1.000 |
0.080 |
X |
13735287 |
stop gained |
G/T
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs312262808
|
1.000 |
0.080 |
X |
13735346 |
missense variant |
G/A;C
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs312262814
|
1.000 |
0.080 |
X |
13736601 |
missense variant |
G/A
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs312262827
|
1.000 |
0.080 |
X |
13739032 |
missense variant |
G/A
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs312262864
|
1.000 |
0.080 |
X |
13753412 |
missense variant |
G/A
|
snv
|
5.5E-06
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs886039862
|
1.000 |
0.080 |
X |
13746318 |
splice acceptor variant |
G/A
|
snv
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
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 |
rs312262822
|
1.000 |
0.080 |
X |
13736678 |
splice donor variant |
G/-
|
delins
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs312262856
|
1.000 |
0.080 |
X |
13749455 |
frameshift variant |
G/-
|
delins
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs312262860
|
1.000 |
0.080 |
X |
13749517 |
frameshift variant |
G/-
|
del
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs312262870
|
1.000 |
0.080 |
X |
13755242 |
splice donor variant |
G/-
|
delins
|
|
|
Orofaciodigital Syndrome I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|