ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3
Germline
Classification
(1)
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 |
1758 | 1813 | |
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 | |
FLT4 | - | - |
GRCh38 GRCh37 |
353 | 431 | |
GFPT2 | - | - |
GRCh38 GRCh37 |
38 | 82 | |
GRM6 | - | - |
GRCh38 GRCh37 |
300 | 863 |
There are 19 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986542.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024