ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.2(chr5:175822822-176520008)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 | |||
CDHR2 | - | - |
GRCh38 GRCh37 |
110 | 168 | |
CLTB | - | - |
GRCh38 GRCh37 |
- | 57 | |
EIF4E1B | - | - | - |
GRCh38 GRCh37 |
19 | 74 |
FAF2 | - | - |
GRCh38 GRCh37 |
8 | 65 | |
FGFR4 | - | - |
GRCh38 GRCh37 |
70 | 132 | |
GPRIN1 | - | - |
GRCh38 GRCh37 |
77 | 137 | |
HK3 | - | - |
GRCh38 GRCh37 |
106 | 162 | |
RNF44 | - | - |
GRCh38 GRCh37 |
47 | 100 | |
SNCB | - | - |
GRCh38 GRCh37 |
19 | 74 | |
TSPAN17 | - | - |
GRCh38 GRCh37 |
10 | 65 |
There are 3 more genes 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986588.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024