ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q12.3-21.1(chr18:39800804-44365152)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 | |||
SETBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1463 | 1510 | |
ATP5F1A | - | - |
GRCh38 GRCh37 |
175 | 248 | |
C18orf25 | - | - | - |
GRCh38 GRCh37 |
- | 3 |
EPG5 | - | - |
GRCh38 GRCh37 |
2246 | 2374 | |
HAUS1 | - | - |
GRCh38 GRCh37 |
19 | 65 | |
LOXHD1 | - | - |
GRCh38 GRCh37 |
2501 | 2545 | |
PSTPIP2 | - | - |
GRCh38 GRCh37 |
11 | 60 | |
RIT2 | - | - |
GRCh38 GRCh37 |
14 | 60 | |
RNF165 | - | - | - |
GRCh38 GRCh37 |
1 | 4 |
SIGLEC15 | - | - |
GRCh38 GRCh37 |
- | 79 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 19, 2018 | RCV001006976.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022