ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1
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 | |||
AASDH | - | - |
GRCh38 GRCh37 |
57 | 79 | |
ADGRL3 | - | - |
GRCh38 GRCh37 |
55 | 73 | |
ADGRL3-AS1 | - | - | - | GRCh38 | - | 8 |
ARL9 | - | - |
GRCh38 GRCh37 |
7 | 27 | |
CEP135 | - | - |
GRCh38 GRCh37 |
436 | 458 | |
CLOCK | - | - |
GRCh38 GRCh37 |
20 | 61 | |
CRACD | - | - |
GRCh38 GRCh37 |
81 | 107 | |
EXOC1 | - | - |
GRCh38 GRCh37 |
29 | 53 | |
EXOC1L | - | - | - | GRCh38 | - | 9 |
HOPX | - | - |
GRCh38 GRCh37 |
13 | 33 |
There are 92 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053266.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023