ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)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 |
527 | 635 | |
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2887 | 3096 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
22 | 105 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
265 | 355 | |
AGXT | - | - |
GRCh38 GRCh37 |
914 | 1034 | |
ANKMY1 | - | - | - |
GRCh38 GRCh37 |
88 | 215 |
ANO7 | - | - |
GRCh38 GRCh37 |
189 | 346 | |
AQP12A | - | - |
GRCh38 GRCh37 |
24 | 133 | |
AQP12B | - | - | - |
GRCh38 GRCh37 |
47 | 154 |
ASB1 | - | - |
GRCh38 GRCh37 |
18 | 104 |
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) |
|
Mar 24, 2014 | RCV000141661.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024