ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.41(chr19:51769834-52415762)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 | |||
SIGLEC5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
36 | 52 | |
CEACAM18 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
CLDND2 | - | - | - |
GRCh38 GRCh37 |
13 | 32 |
ETFB | - | - |
GRCh38 GRCh37 |
337 | 357 | |
FPR1 | - | - |
GRCh38 GRCh37 |
212 | 230 | |
FPR2 | - | - |
GRCh38 GRCh37 |
23 | 44 | |
FPR3 | - | - |
GRCh38 GRCh37 |
- | 39 | |
HAS1 | - | - |
GRCh38 GRCh37 |
49 | 67 | |
IGLON5 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
LIM2 | - | - |
GRCh38 GRCh37 |
57 | 97 |
There are 13 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) |
|
May 1, 2021 | RCV001827892.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022