ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
777 | 1023 | |
ADRA2B | - | - |
GRCh38 GRCh37 |
52 | 117 | |
ANKRD23 | - | - |
GRCh38 GRCh37 |
18 | 82 | |
ANKRD36 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 63 | |
ANKRD36C | - | - | - |
GRCh38 GRCh37 |
17 | 62 |
ANKRD39 | - | - | - |
GRCh38 GRCh37 |
17 | 81 |
ARID5A | - | - |
GRCh38 GRCh37 |
46 | 109 | |
ASTL | - | - |
GRCh38 GRCh37 |
41 | 107 | |
CIAO1 | - | - |
GRCh38 GRCh37 |
17 | 90 | |
CNNM3 | - | - |
GRCh38 GRCh37 |
30 | 128 |
There are 118 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) |
|
Aug 12, 2011 | RCV000051260.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024