ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3
Germline
Classification
(1)
Likely 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 | |||
LMTK3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
82 | 101 | |
BCAT2 | - | - |
GRCh38 GRCh37 |
100 | 122 | |
CA11 | - | - |
GRCh38 GRCh37 |
10 | 23 | |
CYTH2 | - | - |
GRCh38 GRCh37 |
9 | 23 | |
DBP | - | - |
GRCh38 GRCh37 |
13 | 32 | |
FAM83E | - | - | - |
GRCh38 GRCh37 |
49 | 71 |
FGF21 | - | - |
GRCh38 GRCh37 |
- | 40 | |
FUT1 | - | - |
GRCh38 GRCh37 |
33 | 46 | |
FUT2 | - | - |
GRCh38 GRCh37 |
8 | 57 | |
GRIN2D | - | - |
GRCh38 GRCh37 |
991 | 1093 |
There are 18 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) |
|
Sep 30, 2019 | RCV001259943.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022