ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3
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 | |||
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1763 | 1818 | |
BTNL3 | - | - |
GRCh38 GRCh37 |
37 | 71 | |
BTNL8 | - | - |
GRCh38 GRCh37 |
19 | 65 | |
BTNL9 | - | - |
GRCh38 GRCh37 |
64 | 99 | |
C5orf60 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 42 |
CANX | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 89 | |
CBY3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 61 |
CNOT6 | - | - |
GRCh38 GRCh37 |
20 | 56 | |
FLT4 | - | - |
GRCh38 GRCh37 |
365 | 445 | |
GFPT2 | - | - |
GRCh38 GRCh37 |
41 | 86 |
There are 26 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) |
|
Aug 31, 2022 | RCV003484632.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024