ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_18418390)_(19204313_?)del
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 | |||
CSRP3 | - | - |
GRCh38 GRCh37 |
417 | 455 | |
IGSF22 | - | - | - |
GRCh38 GRCh37 |
5 | 106 |
LDHA | - | - |
GRCh38 GRCh38 GRCh37 |
201 | 221 | |
LDHAL6A | - | - |
GRCh38 GRCh37 |
15 | 34 | |
LDHC | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 38 | |
MRGPRX1 | - | - |
GRCh38 GRCh37 |
32 | 50 | |
MRGPRX2 | - | - |
GRCh38 GRCh37 |
23 | 41 | |
PTPN5 | - | - |
GRCh38 GRCh37 |
27 | 72 | |
SPTY2D1 | - | - | - |
GRCh38 GRCh37 |
28 | 59 |
TMEM86A | - | - | - |
GRCh38 GRCh37 |
8 | 29 |
There are 3 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) |
|
May 1, 2022 | RCV003113264.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024