ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.13(chr9:135056358-135636431)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
AK8 | - | - |
GRCh38 GRCh37 |
47 | 97 | |
BARHL1 | - | - |
GRCh38 GRCh37 |
17 | 62 | |
CFAP77 | - | - | - |
GRCh38 GRCh37 |
28 | 74 |
DDX31 | - | - |
GRCh38 GRCh37 |
56 | 108 | |
GTF3C4 | - | - |
GRCh38 GRCh37 |
31 | 84 | |
NTNG2 | - | - |
GRCh38 GRCh37 |
57 | 103 | |
SETX | - | - |
GRCh38 GRCh37 |
1758 | 1841 | |
TTF1 | - | - |
GRCh38 GRCh37 |
85 | 129 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986849.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024