ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q13(chr2:110025659-110371270)x0
Germline
Classification
(1)
Pathogenic
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 | |||
LIMS4 | - | - | - |
GRCh38 GRCh37 |
- | 44 |
LOC126806305 | - | - | - | GRCh38 | - | 54 |
LOC126806306 | - | - | - | GRCh38 | - | 88 |
LOC128966597 | - | - | - | GRCh38 | - | 22 |
LOC129934555 | - | - | - | GRCh38 | - | 34 |
LOC129934556 | - | - | - | GRCh38 | - | 32 |
MALL | - | - |
GRCh38 GRCh37 |
2 | 159 | |
MIR4267 | - | - | - | GRCh38 | - | 24 |
MIR4436B1 | - | - | - | GRCh38 | - | 30 |
MIR4436B2 | - | - | - | GRCh38 | - | 22 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051262.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024