rs1159758018
|
1.000 |
0.120 |
4 |
5631845 |
frameshift variant |
TCCC/-
|
del
|
|
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 |
rs753581033
|
1.000 |
0.120 |
4 |
5563115 |
frameshift variant |
G/-
|
del
|
2.0E-05
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs772840335
|
1.000 |
0.120 |
4 |
5640597 |
frameshift variant |
TT/-
|
del
|
4.0E-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 |
rs777505711
|
1.000 |
0.120 |
4 |
5665627 |
frameshift variant |
T/-
|
del
|
|
|
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 |
rs1431987950
|
1.000 |
0.120 |
4 |
5625832 |
stop gained |
TCTGCTTGATTGAAA/-
|
del
|
8.0E-06
|
|
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 |
|
|
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 |
|
|
rs778793911
|
1.000 |
0.120 |
4 |
5568525 |
frameshift variant |
AGCAGGGCCAGCAGCTGAG/-
|
del
|
4.4E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs886037763
|
1.000 |
0.120 |
4 |
5615505 |
frameshift variant |
T/-
|
delins
|
4.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs755789146
|
1.000 |
0.120 |
4 |
5665626 |
splice acceptor variant |
GCCGTGGTGCGGCAGAACCTGTGGAG/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs992326794
|
1.000 |
0.120 |
4 |
5708315 |
frameshift variant |
-/CCCCG
|
delins
|
|
7.1E-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 |
rs1221185345
|
0.925 |
0.160 |
4 |
5708363 |
frameshift variant |
GATCCCGGGG/-
|
delins
|
|
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1221185345
|
0.925 |
0.160 |
4 |
5708363 |
frameshift variant |
GATCCCGGGG/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1420414097
|
1.000 |
0.120 |
4 |
5708306 |
frameshift variant |
CTCCGCCCCG/-
|
delins
|
|
1.4E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1430962566
|
1.000 |
0.120 |
4 |
5708451 |
frameshift variant |
-/A
|
delins
|
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553812417
|
1.000 |
0.120 |
4 |
5565283 |
frameshift variant |
G/TC
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553836165
|
1.000 |
0.120 |
4 |
5628731 |
frameshift variant |
-/C
|
delins
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|