ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3
Germline
Classification
(1)
Likely 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 |
774 | 1019 | |
ACTR1B | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 51 | |
ADRA2B | - | - |
GRCh38 GRCh37 |
52 | 117 | |
AFF3 | - | - |
GRCh38 GRCh37 |
159 | 181 | |
ANKRD23 | - | - |
GRCh38 GRCh37 |
18 | 82 | |
ANKRD36 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 63 | |
ANKRD36B | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 34 |
ANKRD36C | - | - | - |
GRCh38 GRCh37 |
17 | 62 |
ANKRD39 | - | - | - |
GRCh38 GRCh37 |
17 | 81 |
ARID5A | - | - |
GRCh38 GRCh37 |
46 | 109 |
There are 56 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 29, 2022 | RCV003484069.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024