ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1
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 | |||
SETBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1456 | 1502 | |
ARK2C | - | - | - |
GRCh38 GRCh37 |
11 | 52 |
ARK2N | - | - | - |
GRCh38 GRCh37 |
2 | 43 |
ATP5F1A | - | - |
GRCh38 GRCh37 |
175 | 247 | |
EPG5 | - | - |
GRCh38 GRCh37 |
2237 | 2364 | |
HAUS1 | - | - |
GRCh38 GRCh37 |
19 | 64 | |
PIK3C3 | - | - |
GRCh38 GRCh37 |
39 | 84 | |
PSTPIP2 | - | - |
GRCh38 GRCh37 |
11 | 59 | |
RIT2 | - | - |
GRCh38 GRCh37 |
14 | 59 | |
SIGLEC15 | - | - |
GRCh38 GRCh37 |
- | 78 |
There are 3 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003987291.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024