rs1553840713
|
1.000 |
0.120 |
4 |
5640813 |
frameshift variant |
CC/G
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553849894
|
1.000 |
0.120 |
4 |
5681315 |
splice acceptor variant |
T/C
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553851462
|
1.000 |
0.120 |
4 |
5689328 |
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 |
|
|
rs1553851870
|
1.000 |
0.120 |
4 |
5691335 |
splice acceptor variant |
T/C
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553852469
|
1.000 |
0.120 |
4 |
5694334 |
splice donor variant |
C/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553855074
|
1.000 |
0.120 |
4 |
5708302 |
frameshift variant |
-/CCCGCCCCGC
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553855127
|
1.000 |
0.120 |
4 |
5708387 |
frameshift variant |
-/GGGGCGCCAGCGGGGACGTGAG
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553855151
|
1.000 |
0.120 |
4 |
5708463 |
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 |
|
|
rs1553857828
|
1.000 |
0.120 |
4 |
5711404 |
frameshift variant |
C/-
|
del
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553857995
|
1.000 |
0.120 |
4 |
5711514 |
stop gained |
G/A
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1560121645
|
1.000 |
0.120 |
4 |
5562970 |
stop gained |
C/A
|
snv
|
|
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs376133710
|
1.000 |
0.080 |
4 |
5576391 |
stop gained |
G/A
|
snv
|
4.0E-06
|
2.1E-05
|
Short rib-polydactyly syndrome, Beemer type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs587776568
|
1.000 |
0.120 |
4 |
5562982 |
frameshift variant |
G/-
|
del
|
|
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs730882232
|
1.000 |
0.040 |
4 |
5562881 |
inframe insertion |
-/GCATTCAAAAAGTTCTTCTTTTTC
|
delins
|
4.0E-06
|
|
Meckel-Gruber syndrome
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs748820015
|
0.925 |
0.160 |
4 |
5694444 |
stop gained |
G/C;T
|
snv
|
1.2E-05
|
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs748820015
|
0.925 |
0.160 |
4 |
5694444 |
stop gained |
G/C;T
|
snv
|
1.2E-05
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs749251178
|
1.000 |
0.120 |
4 |
5615545 |
splice acceptor variant |
C/A;G
|
snv
|
4.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs750396637
|
1.000 |
0.120 |
4 |
5568590 |
frameshift variant |
CCCGGGC/-
|
delins
|
1.2E-05
|
3.5E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs751356206
|
0.925 |
0.160 |
4 |
5622775 |
stop gained |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs760066386
|
1.000 |
0.120 |
4 |
5576456 |
splice acceptor variant |
T/C
|
snv
|
4.9E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs762947212
|
1.000 |
0.120 |
4 |
5625748 |
splice donor variant |
C/A;G;T
|
snv
|
1.2E-05;
4.0E-06;
4.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs769799880
|
1.000 |
0.120 |
4 |
5697649 |
splice acceptor variant |
T/C
|
snv
|
1.6E-05
|
3.5E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs769864196
|
0.882 |
0.120 |
4 |
5631795 |
stop gained |
G/A
|
snv
|
3.2E-05
|
4.9E-05
|
Majewski Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs769864196
|
0.882 |
0.120 |
4 |
5631795 |
stop gained |
G/A
|
snv
|
3.2E-05
|
4.9E-05
|
Short rib-polydactyly syndrome, Beemer type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs774416029
|
0.925 |
0.160 |
4 |
5694392 |
frameshift variant |
-/A
|
delins
|
4.0E-06
|
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|