ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)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 |
720 | 955 | |
ADRA2B | - | - |
GRCh38 GRCh37 |
46 | 110 | |
ANKRD23 | - | - |
GRCh38 GRCh37 |
12 | 73 | |
ANKRD36C | - | - | - |
GRCh38 GRCh37 |
16 | 60 |
ANKRD39 | - | - | - |
GRCh38 GRCh37 |
11 | 73 |
ARID5A | - | - |
GRCh38 GRCh37 |
29 | 91 | |
ASTL | - | - |
GRCh38 GRCh37 |
27 | 92 | |
CIAO1 | - | - |
GRCh38 GRCh37 |
10 | 80 | |
CNNM3 | - | - |
GRCh38 GRCh37 |
15 | 96 | |
CNNM3-DT | - | - | - | GRCh38 | - | 21 |
There are 111 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) |
|
Aug 5, 2011 | RCV000134141.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023