ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ZEB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1325 | 1394 | |
ARHGAP15 | - | - |
GRCh38 GRCh37 |
19 | 50 | |
ARHGAP15-AS1 | - | - | - | GRCh38 | - | 13 |
GTDC1 | - | - |
GRCh38 GRCh37 |
15 | 52 | |
HNMT | - | - |
GRCh38 GRCh37 |
39 | 62 | |
KYNU | - | - |
GRCh38 GRCh37 |
71 | 95 | |
LINC01412 | - | - | - | GRCh38 | - | 12 |
LINC01832 | - | - | - | GRCh38 | - | 6 |
LINC01853 | - | - | - | GRCh38 | 1 | 4 |
LINC01966 | - | - | - | GRCh38 | - | 7 |
There are 67 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
May 12, 2011 | RCV000137506.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024