ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)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 | |||
HDAC4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
496 | 603 | |
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2852 | 3056 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 103 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
256 | 346 | |
AGAP1-IT1 | - | - | - | GRCh38 | - | 23 |
AGXT | - | - |
GRCh38 GRCh37 |
896 | 1012 | |
ANKMY1 | - | - | - |
GRCh38 GRCh37 |
84 | 206 |
ANO7 | - | - |
GRCh38 GRCh37 |
180 | 334 | |
AQP12A | - | - |
GRCh38 GRCh37 |
20 | 128 | |
AQP12B | - | - | - |
GRCh38 GRCh37 |
42 | 148 |
There are 317 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) |
|
Aug 12, 2011 | RCV000052670.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023