ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q25.3(chr1:180586428-183178629)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 | |||
CACNA1E | - | - |
GRCh38 GRCh37 |
1969 | 2001 | |
DHX9 | - | - |
GRCh38 GRCh37 |
37 | 67 | |
GLUL | - | - |
GRCh38 GRCh37 |
193 | 269 | |
IER5 | - | - |
GRCh38 GRCh37 |
13 | 53 | |
KIAA1614 | - | - | - |
GRCh38 GRCh37 |
97 | 134 |
LAMC1 | - | - |
GRCh38 GRCh37 |
228 | 263 | |
LAMC2 | - | - |
GRCh38 GRCh37 |
1117 | 1196 | |
MR1 | - | - |
GRCh38 GRCh37 |
24 | 57 | |
NPL | - | - |
GRCh38 GRCh37 |
18 | 49 | |
RGS16 | - | - |
GRCh38 GRCh37 |
12 | 46 |
There are 8 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 7, 2019 | RCV001005158.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022