ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)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 | |||
HDAC4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
497 | 605 | |
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2855 | 3061 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 104 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
260 | 350 | |
AGXT | - | - |
GRCh38 GRCh37 |
899 | 1017 | |
ANKMY1 | - | - | - |
GRCh38 GRCh37 |
84 | 207 |
ANO7 | - | - |
GRCh38 GRCh37 |
180 | 335 | |
AQP12A | - | - |
GRCh38 GRCh37 |
20 | 129 | |
AQP12B | - | - | - |
GRCh38 GRCh37 |
42 | 149 |
ASB1 | - | - |
GRCh38 GRCh37 |
15 | 100 |
There are 280 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) |
|
Dec 22, 2010 | RCV000136648.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024