ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.1(chr2:231892041-232652305)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 | |||
DIS3L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2268 | 2312 | |
ALPG | - | - |
GRCh38 GRCh37 |
29 | 100 | |
ALPI | - | - |
GRCh38 GRCh37 |
59 | 98 | |
ALPP | - | - |
GRCh38 GRCh37 |
65 | 104 | |
CHRND | - | - |
GRCh38 GRCh37 |
530 | 575 | |
CHRNG | - | - |
GRCh38 GRCh37 |
332 | 528 | |
ECEL1 | - | - |
GRCh38 GRCh37 |
203 | 244 | |
EFHD1 | - | - |
GRCh38 GRCh37 |
8 | 51 | |
EIF4E2 | - | - |
GRCh38 GRCh37 |
11 | 51 | |
LOC105373929 | - | - | - | GRCh38 | - | 14 |
There are 30 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 27, 2010 | RCV000133712.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024