ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p13.2(chr2:72861062-72992130)x1
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 | |||
EMX1 | - | - |
GRCh38 GRCh37 |
12 | 32 | |
LOC110120967 | - | - | - | GRCh38 | - | 3 |
LOC115945161 | - | - | - | GRCh38 | - | 3 |
LOC129934069 | - | - | - | GRCh38 | - | 74 |
LOC129934070 | - | - | - | GRCh38 | - | 3 |
LOC129934071 | - | - | - | GRCh38 | - | 3 |
LOC129934072 | - | - | - | GRCh38 | - | 3 |
LOC129934073 | - | - | - | GRCh38 | - | 7 |
LOC129934074 | - | - | - | GRCh38 | - | 3 |
SFXN5 | - | - |
GRCh38 GRCh37 |
31 | 47 |
There is 1 more gene 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054055.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023