Genomix Search Engine
Pencarian Data Klinis Genomik Berkinerja Tinggi
Large-Scale Query Optimization Enabled
Data Pool: 5M+ Raw Records / 1.8M+ Active Showcase Submissions
Total Database: 2,190,168 variants
Menampilkan 25 data per halaman
|
cursorPaginate(25)
| Variation ID | Gene Symbol | Chromosome | Clinical Significance | Review Status | Disease / Condition | Submissions |
|---|---|---|---|---|---|---|
|
2
Indel
|
AP5Z1 |
7
4,820,844
|
Pathogenic/Likely pathogenic |
criteria provided, multiple submitters, no conflicts
|
-
|
4 submitters |
|
2
Indel
|
AP5Z1 |
7
4,781,213
|
Pathogenic/Likely pathogenic |
criteria provided, multiple submitters, no conflicts
|
-
|
4 submitters |
|
3
Deletion
|
AP5Z1 |
7
4,827,361
|
Pathogenic |
no assertion criteria provided
|
-
|
1 submitters |
|
3
Deletion
|
AP5Z1 |
7
4,787,730
|
Pathogenic |
no assertion criteria provided
|
-
|
1 submitters |
|
4
single nucleotide variant
|
ZNF592 |
15
85,342,440
|
Uncertain significance |
no assertion criteria provided
|
-
|
1 submitters |
|
4
single nucleotide variant
|
ZNF592 |
15
84,799,209
|
Uncertain significance |
no assertion criteria provided
|
-
|
1 submitters |
|
5
single nucleotide variant
|
FOXRED1 |
11
126,145,284
|
Pathogenic |
criteria provided, multiple submitters, no conflicts
|
-
|
6 submitters |
|
5
single nucleotide variant
|
FOXRED1 |
11
126,275,389
|
Pathogenic |
criteria provided, multiple submitters, no conflicts
|
-
|
6 submitters |
|
6
single nucleotide variant
|
FOXRED1 |
11
126,147,412
|
Likely pathogenic |
criteria provided, single submitter
|
-
|
2 submitters |
|
6
single nucleotide variant
|
FOXRED1 |
11
126,277,517
|
Likely pathogenic |
criteria provided, single submitter
|
-
|
2 submitters |
|
214885
single nucleotide variant
|
NUBPL |
14
32,031,331
|
Conflicting classifications of pathogenicity |
criteria provided, conflicting classifications
|
-
|
6 submitters |
|
214885
single nucleotide variant
|
NUBPL |
14
31,562,125
|
Conflicting classifications of pathogenicity |
criteria provided, conflicting classifications
|
-
|
6 submitters |
|
9
single nucleotide variant
|
HFE |
6
26,093,141
|
Conflicting classifications of pathogenicity; other; risk factor |
criteria provided, conflicting classifications
|
-
|
56 submitters |
|
9
single nucleotide variant
|
HFE |
6
26,092,913
|
Conflicting classifications of pathogenicity; other; risk factor |
criteria provided, conflicting classifications
|
-
|
56 submitters |
|
10
single nucleotide variant
|
HFE |
6
26,091,179
|
Conflicting classifications of pathogenicity; other |
criteria provided, conflicting classifications
|
-
|
56 submitters |
|
10
single nucleotide variant
|
HFE |
6
26,090,951
|
Conflicting classifications of pathogenicity; other |
criteria provided, conflicting classifications
|
-
|
56 submitters |
|
11
single nucleotide variant
|
HFE |
6
26,091,185
|
Conflicting classifications of pathogenicity |
criteria provided, conflicting classifications
|
-
|
16 submitters |
|
11
single nucleotide variant
|
HFE |
6
26,090,957
|
Conflicting classifications of pathogenicity |
criteria provided, conflicting classifications
|
-
|
16 submitters |
|
12
single nucleotide variant
|
HFE |
6
26,091,306
|
Uncertain significance |
criteria provided, single submitter
|
-
|
2 submitters |
|
12
single nucleotide variant
|
HFE |
6
26,091,078
|
Uncertain significance |
criteria provided, single submitter
|
-
|
2 submitters |
|
13
single nucleotide variant
|
HFE |
6
26,091,269
|
Uncertain significance |
criteria provided, single submitter
|
-
|
2 submitters |
|
13
single nucleotide variant
|
HFE |
6
26,091,041
|
Uncertain significance |
criteria provided, single submitter
|
-
|
2 submitters |
|
14
single nucleotide variant
|
HFE |
6
26,093,236
|
Benign |
criteria provided, single submitter
|
-
|
2 submitters |
|
14
single nucleotide variant
|
HFE |
6
26,093,008
|
Benign |
criteria provided, single submitter
|
-
|
2 submitters |
|
15
single nucleotide variant
|
HFE |
6
26,091,149
|
Uncertain significance |
criteria provided, multiple submitters, no conflicts
|
-
|
3 submitters |
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