ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.3(chr2:236966763-242065208)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 |
496 | 604 | |
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2855 | 3061 | |
AGXT | - | - |
GRCh38 GRCh37 |
897 | 1015 | |
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 | |
ATG4B | - | - |
GRCh38 GRCh37 |
34 | 155 | |
BOK | - | - |
GRCh38 GRCh37 |
12 | 135 |
There are 263 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) |
|
Jan 24, 2011 | RCV000135570.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024