ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3
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 | |||
BCL11A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
211 | 238 | |
AAK1 | - | - |
GRCh38 GRCh37 |
33 | 57 | |
ACTG2 | - | - |
GRCh38 GRCh37 |
84 | 100 | |
ACTR2 | - | - |
GRCh38 GRCh37 |
10 | 27 | |
ADD2 | - | - |
GRCh38 GRCh37 |
33 | 52 | |
AFTPH | - | - |
GRCh38 GRCh37 |
60 | 74 | |
AFTPH-DT | - | - | - | GRCh38 | - | 3 |
ALMS1 | - | - |
GRCh38 GRCh38 GRCh37 |
6054 | 6365 | |
ALMS1-IT1 | - | - | - |
GRCh38 GRCh38 |
- | 3 |
ANKRD53 | - | - |
GRCh38 GRCh37 |
59 | 74 |
There are 760 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) |
|
Nov 30, 2010 | RCV000136053.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024