ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1
Germline
Classification
(1)
Uncertain significance
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 |
2862 | 3068 | |
AGXT | - | - |
GRCh38 GRCh37 |
905 | 1023 | |
ANKMY1 | - | - | - |
GRCh38 GRCh37 |
88 | 215 |
ANO7 | - | - |
GRCh38 GRCh37 |
189 | 346 | |
AQP12A | - | - |
GRCh38 GRCh37 |
24 | 133 | |
AQP12B | - | - | - |
GRCh38 GRCh37 |
47 | 154 |
ATG4B | - | - |
GRCh38 GRCh37 |
38 | 159 | |
BOK | - | - |
GRCh38 GRCh37 |
18 | 142 | |
BOK-AS1 | - | - | - | GRCh38 | - | 47 |
CAPN10 | - | - |
GRCh38 GRCh37 |
93 | 205 |
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
|
Uncertain significance (1) |
|
Feb 14, 2018 | RCV000140648.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024