ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.31(chr19:43846269-44055858)x4
Germline
Classification
(1)
Uncertain significance
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 | |||
CD177 | - | - |
GRCh38 GRCh37 |
42 | 58 | |
ETHE1 | - | - |
GRCh38 GRCh37 |
403 | 441 | |
LYPD3 | - | - |
GRCh38 GRCh37 |
22 | 37 | |
PHLDB3 | - | - | - |
GRCh38 GRCh37 |
55 | 71 |
PRG1 | - | - |
GRCh38 GRCh37 |
- | 16 | |
TEX101 | - | - |
GRCh38 GRCh37 |
11 | 27 | |
XRCC1 | - | - |
GRCh38 GRCh37 |
78 | 94 | |
ZNF575 | - | - | - |
GRCh38 GRCh37 |
13 | 29 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 26, 2017 | RCV000684072.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022