ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q11.2(chr18:20803607-24109364)x1
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 | |||
ANKRD29 | - | - | - |
GRCh38 GRCh37 |
24 | 62 |
CABLES1 | - | - |
GRCh38 GRCh37 |
21 | 89 | |
CABYR | - | - |
GRCh38 GRCh37 |
29 | 64 | |
HRH4 | - | - |
GRCh38 GRCh37 |
20 | 55 | |
IMPACT | - | - |
GRCh38 GRCh37 |
7 | 42 | |
KCTD1 | - | - |
GRCh38 GRCh37 |
94 | 151 | |
LAMA3 | - | - |
GRCh38 GRCh37 |
1832 | 1922 | |
NPC1 | - | - |
GRCh38 GRCh37 |
2442 | 2498 | |
OSBPL1A | - | - |
GRCh38 GRCh37 |
41 | 76 | |
PSMA8 | - | - |
GRCh38 GRCh37 |
18 | 55 |
There are 7 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 3, 2018 | RCV000684036.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022