ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32(chr18:136226-1742272)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
ADCYAP1 | - | - |
GRCh38 GRCh37 |
11 | 163 | |
CETN1 | - | - |
GRCh38 GRCh37 |
6 | 159 | |
CLUL1 | - | - |
GRCh38 GRCh37 |
25 | 185 | |
COLEC12 | - | - |
GRCh38 GRCh37 |
45 | 193 | |
ENOSF1 | - | - |
GRCh38 GRCh37 |
34 | 202 | |
THOC1 | - | - |
GRCh38 GRCh37 |
18 | 162 | |
TYMS | - | - |
GRCh38 GRCh37 |
4 | 179 | |
TYMSOS | - | - | - |
GRCh38 GRCh37 |
- | 164 |
USP14 | - | - |
GRCh38 GRCh37 |
26 | 165 | |
YES1 | - | - |
GRCh38 GRCh37 |
22 | 179 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 23, 2014 | RCV000511941.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024