ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1
Germline
Classification
(1)
Likely 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 | |||
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2852 | 3055 | |
AGXT | - | - |
GRCh38 GRCh37 |
896 | 1011 | |
ANKMY1 | - | - | - |
GRCh38 GRCh37 |
84 | 205 |
ANO7 | - | - |
GRCh38 GRCh37 |
180 | 333 | |
AQP12A | - | - |
GRCh38 GRCh37 |
20 | 127 | |
AQP12B | - | - | - |
GRCh38 GRCh37 |
42 | 147 |
ATG4B | - | - |
GRCh38 GRCh37 |
34 | 153 | |
BOK | - | - |
GRCh38 GRCh37 |
12 | 133 | |
BOK-AS1 | - | - | - | GRCh38 | - | 47 |
CAPN10 | - | - |
GRCh38 GRCh37 |
91 | 199 |
There are 132 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
|
Likely pathogenic (1) |
|
May 3, 2012 | RCV000138565.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024