ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)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 | |||
SETBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1505 | 1552 | |
CELF4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
34 | 93 | |
KATNAL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
123 | 281 | |
SMAD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
337 | 376 | |
ARK2C | - | - | - |
GRCh38 GRCh37 |
12 | 54 |
ARK2N | - | - | - |
GRCh38 GRCh37 |
2 | 44 |
ATP5F1A | - | - |
GRCh38 GRCh37 |
187 | 261 | |
CTIF | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 92 | |
DYM | - | - |
GRCh38 GRCh37 |
298 | 377 | |
ELOA2 | - | - |
GRCh38 GRCh37 |
- | 154 |
There are 21 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) |
|
- | RCV003987274.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024