ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.1(chr5:168955293-170432136)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
C5orf58 | - | - | - |
GRCh38 GRCh37 |
2 | 30 |
DOCK2 | - | - |
GRCh38 GRCh37 |
962 | 1057 | |
FOXI1 | - | - |
GRCh38 GRCh37 |
151 | 173 | |
GABRP | - | - |
GRCh38 GRCh37 |
30 | 51 | |
INSYN2B | - | - | - |
GRCh38 GRCh37 |
- | 67 |
KCNIP1 | - | - |
GRCh38 GRCh37 |
7 | 51 | |
KCNMB1 | - | - |
GRCh38 GRCh37 |
- | 43 | |
LCP2 | - | - |
GRCh38 GRCh37 |
39 | 68 | |
LOC100128059 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
RANBP17 | - | - |
GRCh38 GRCh37 |
93 | 117 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Mar 5, 2015 | RCV000511893.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024