ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q11.2(chr2:96073560-97513144)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 | |||
TMEM127 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
752 | 992 | |
ADRA2B | - | - |
GRCh38 GRCh37 |
48 | 112 | |
ANKRD23 | - | - |
GRCh38 GRCh37 |
15 | 78 | |
ANKRD36 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 62 | |
ANKRD36B | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 34 |
ANKRD39 | - | - | - |
GRCh38 GRCh37 |
15 | 78 |
APPAT | - | - | - |
GRCh38 GRCh38 |
- | 8 |
ARID5A | - | - |
GRCh38 GRCh37 |
42 | 104 | |
ASTL | - | - |
GRCh38 GRCh37 |
34 | 99 | |
CIAO1 | - | - |
GRCh38 GRCh37 |
12 | 82 |
There are 115 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) |
|
Oct 24, 2012 | RCV000142800.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024