ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
MAP2K2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
769 | 850 | |
ANKRD24 | - | - |
GRCh38 GRCh37 |
87 | 113 | |
ATCAY | - | - |
GRCh38 GRCh37 |
192 | 222 | |
CHAF1A | - | - |
GRCh38 GRCh37 |
65 | 121 | |
CREB3L3 | - | - |
GRCh38 GRCh37 |
177 | 240 | |
DAPK3 | - | - |
GRCh38 GRCh37 |
21 | 50 | |
DPP9 | - | - |
GRCh38 GRCh37 |
29 | 99 | |
EBI3 | - | - |
GRCh38 GRCh37 |
23 | 48 | |
EEF2 | - | - |
GRCh38 GRCh37 |
370 | 427 | |
FEM1A | - | - |
GRCh38 GRCh37 |
27 | 45 |
There are 22 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986118.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024