rs1553876870
|
1.000 |
0.120 |
4 |
5756352 |
frameshift variant |
-/A
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553873969
|
0.925 |
0.160 |
4 |
5748262 |
frameshift variant |
-/AGCC
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1553873969
|
0.925 |
0.160 |
4 |
5748262 |
frameshift variant |
-/AGCC
|
delins
|
|
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs146475474
|
1.000 |
0.120 |
4 |
5798662 |
frameshift variant |
-/C
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553876034
|
1.000 |
0.120 |
4 |
5753871 |
frameshift variant |
-/GAACAGAGAAG
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553876813
|
1.000 |
0.120 |
4 |
5756271 |
frameshift variant |
-/T
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs78226944
|
|
|
4 |
5855526 |
intron variant |
A/C
|
snv
|
|
0.11
|
Velopharyngeal dysfunction
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1424976594
|
1.000 |
0.120 |
4 |
5810453 |
splice region variant |
A/G
|
snv
|
8.5E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2013 |
2017 |
rs909612975
|
1.000 |
0.120 |
4 |
5793606 |
splice acceptor variant |
A/G
|
snv
|
6.4E-06
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1553886849
|
1.000 |
0.120 |
4 |
5783550 |
splice acceptor variant |
A/G
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs753014919
|
0.925 |
0.160 |
4 |
5783682 |
frameshift variant |
C/-
|
del
|
|
1.2E-04
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2007 |
2013 |
rs753014919
|
0.925 |
0.160 |
4 |
5783682 |
frameshift variant |
C/-
|
del
|
|
1.2E-04
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
2007 |
2013 |
rs1553895755
|
1.000 |
0.120 |
4 |
5808305 |
frameshift variant |
C/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1560340993
|
0.925 |
0.160 |
4 |
5753048 |
frameshift variant |
C/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1560340993
|
0.925 |
0.160 |
4 |
5753048 |
frameshift variant |
C/-
|
delins
|
|
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs759106605
|
1.000 |
0.120 |
4 |
5756337 |
frameshift variant |
C/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121908425
|
0.763 |
0.160 |
4 |
5748226 |
stop gained |
C/A;T
|
snv
|
3.2E-05;
1.2E-05
|
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2018 |
rs121908425
|
0.763 |
0.160 |
4 |
5748226 |
stop gained |
C/A;T
|
snv
|
3.2E-05;
1.2E-05
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2000 |
2018 |
rs121908425
|
0.763 |
0.160 |
4 |
5748226 |
stop gained |
C/A;T
|
snv
|
3.2E-05;
1.2E-05
|
|
Syndactyly of the toes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121908425
|
0.763 |
0.160 |
4 |
5748226 |
stop gained |
C/A;T
|
snv
|
3.2E-05;
1.2E-05
|
|
Polydactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121908425
|
0.763 |
0.160 |
4 |
5748226 |
stop gained |
C/A;T
|
snv
|
3.2E-05;
1.2E-05
|
|
Micrognathism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs121908425
|
0.763 |
0.160 |
4 |
5748226 |
stop gained |
C/A;T
|
snv
|
3.2E-05;
1.2E-05
|
|
Low set ears
|
|
0.700 |
|
0 |
|
|
rs121908425
|
0.763 |
0.160 |
4 |
5748226 |
stop gained |
C/A;T
|
snv
|
3.2E-05;
1.2E-05
|
|
Short long bone
|
|
0.700 |
|
0 |
|
|
rs121908425
|
0.763 |
0.160 |
4 |
5748226 |
stop gained |
C/A;T
|
snv
|
3.2E-05;
1.2E-05
|
|
Single transverse palmar crease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
|
0 |
|
|
rs121908425
|
0.763 |
0.160 |
4 |
5748226 |
stop gained |
C/A;T
|
snv
|
3.2E-05;
1.2E-05
|
|
Upward slant of palpebral fissure
|
|
0.700 |
|
0 |
|
|