rs1057517040
|
1.000 |
0.160 |
19 |
7528235 |
frameshift variant |
-/A
|
ins
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs755042147
|
1.000 |
0.160 |
19 |
7528639 |
frameshift variant |
T/-
|
del
|
8.0E-06
|
2.8E-05
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797044821
|
1.000 |
0.160 |
19 |
7526828 |
frameshift variant |
CC/-
|
del
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797044830
|
1.000 |
0.160 |
19 |
7526503 |
frameshift variant |
TC/-
|
del
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516904
|
0.925 |
0.160 |
19 |
7528881 |
frameshift variant |
-/A
|
delins
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
11 |
1998 |
2016 |
rs1057516904
|
0.925 |
0.160 |
19 |
7528881 |
frameshift variant |
-/A
|
delins
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
11 |
1998 |
2016 |
rs797044823
|
1.000 |
0.160 |
19 |
7530370 |
frameshift variant |
-/GGCCGCAGCAG
|
delins
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2002 |
rs1555742780
|
1.000 |
0.160 |
19 |
7533561 |
frameshift variant |
G/-
|
delins
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs797044817
|
1.000 |
0.160 |
19 |
7529184 |
inframe deletion |
TTC/-
|
delins
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs1057516602
|
1.000 |
0.160 |
19 |
7524978 |
frameshift variant |
-/C
|
delins
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516904
|
0.925 |
0.160 |
19 |
7528881 |
frameshift variant |
-/A
|
delins
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555741548
|
1.000 |
0.160 |
19 |
7524964 |
frameshift variant |
-/AGCG
|
delins
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs779141908
|
1.000 |
0.160 |
19 |
7528684 |
splice donor variant |
CTGCTGCAGAACGTGAGGCTTC/-
|
delins
|
|
1.4E-05
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797044820
|
1.000 |
0.160 |
19 |
7525092 |
frameshift variant |
AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT/TCA
|
delins
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797044822
|
1.000 |
0.160 |
19 |
7529175 |
frameshift variant |
-/T
|
delins
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908372
|
1.000 |
0.160 |
19 |
7528920 |
missense variant |
G/T
|
snv
|
8.0E-06
|
4.2E-05
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2000 |
2017 |
rs121908374
|
1.000 |
0.160 |
19 |
7529173 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.810 |
1.000 |
14 |
2000 |
2017 |
rs754097561
|
1.000 |
0.160 |
19 |
7529689 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
1.6E-05
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
2000 |
2017 |
rs767122713
|
1.000 |
0.160 |
19 |
7527877 |
missense variant |
A/C
|
snv
|
1.6E-05
|
1.4E-05
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
2000 |
2017 |
rs104886461
|
0.925 |
0.160 |
19 |
7526759 |
splice acceptor variant |
A/G
|
snv
|
2.1E-04
|
8.4E-05
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
2000 |
2009 |
rs104886461
|
0.925 |
0.160 |
19 |
7526759 |
splice acceptor variant |
A/G
|
snv
|
2.1E-04
|
8.4E-05
|
Mucolipidoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2000 |
2013 |
rs797044824
|
1.000 |
0.160 |
19 |
7526869 |
stop gained |
C/T
|
snv
|
|
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2000 |
2015 |
rs121908371
|
1.000 |
0.160 |
19 |
7528683 |
stop gained |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2011 |
rs121908373
|
1.000 |
0.160 |
19 |
7526505 |
stop gained |
C/T
|
snv
|
2.4E-05
|
2.8E-05
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2002 |
rs767950930
|
1.000 |
0.160 |
19 |
7528704 |
splice donor variant |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
Mucolipidosis Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2001 |