ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.3(chr5:177776148-180687012)
Germline
Classification
(1)
Likely pathogenic
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 |
1751 | 1806 | |
BTNL3 | - | - |
GRCh38 GRCh37 |
33 | 67 | |
BTNL8 | - | - |
GRCh38 GRCh37 |
18 | 63 | |
BTNL9 | - | - | - |
GRCh38 GRCh37 |
57 | 92 |
C5orf60 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 42 |
CANX | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 83 | |
CBY3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 60 |
CLK4 | - | - |
GRCh38 GRCh37 |
20 | 59 | |
CNOT6 | - | - |
GRCh38 GRCh37 |
17 | 53 | |
COL23A1 | - | - |
GRCh38 GRCh37 |
33 | 76 |
There are 35 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 1, 2018 | RCV000767663.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023