ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.31(chr19:43803157-44105375)x3
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 |
46 | 62 | |
ETHE1 | - | - |
GRCh38 GRCh37 |
405 | 443 | |
IRGQ | - | - | - |
GRCh38 GRCh37 |
30 | 42 |
LYPD3 | - | - |
GRCh38 GRCh37 |
23 | 38 | |
PHLDB3 | - | - | - |
GRCh38 GRCh37 |
63 | 79 |
PINLYP | - | - | - |
GRCh38 GRCh37 |
17 | 30 |
PRG1 | - | - |
GRCh38 GRCh37 |
- | 16 | |
TEX101 | - | - |
GRCh38 GRCh37 |
11 | 27 | |
XRCC1 | - | - |
GRCh38 GRCh37 |
83 | 99 | |
ZNF575 | - | - | - |
GRCh38 GRCh37 |
18 | 34 |
There is 1 more gene 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) |
|
Sep 29, 2017 | RCV000845850.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022