ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q14.3(chr2:128024782-129332242)
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 | |||
AMMECR1L | - | - | - |
GRCh38 GRCh37 |
12 | 38 |
ERCC3 | - | - |
GRCh38 GRCh37 |
554 | 584 | |
GPR17 | - | - |
GRCh38 GRCh37 |
- | 53 | |
HS6ST1 | - | - |
GRCh38 GRCh37 |
118 | 151 | |
IWS1 | - | - | - |
GRCh38 GRCh37 |
34 | 60 |
LIMS2 | - | - |
GRCh38 GRCh37 |
312 | 366 | |
MAP3K2 | - | - |
GRCh38 GRCh37 |
19 | 48 | |
MYO7B | - | - |
GRCh38 GRCh37 |
222 | 270 | |
POLR2D | - | - |
GRCh38 GRCh37 |
2 | 31 | |
PROC | - | - |
GRCh38 GRCh37 |
369 | 395 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053228.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022