ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1
Germline
Classification
(1)
Likely 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 | |||
AFF3 | - | - |
GRCh38 GRCh37 |
146 | 168 | |
C2orf15 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
CHST10 | - | - |
GRCh38 GRCh37 |
23 | 46 | |
CNOT11 | - | - |
GRCh38 GRCh37 |
10 | 32 | |
COA5 | - | - |
GRCh38 GRCh37 |
24 | 42 | |
CRACDL | - | - | - |
GRCh38 GRCh37 |
74 | 94 |
CREG2 | - | - |
GRCh38 GRCh37 |
21 | 44 | |
EIF5B | - | - |
GRCh38 GRCh37 |
46 | 69 | |
FRA2A | - | - | - | GRCh38 | - | 7 |
INPP4A | - | - |
GRCh38 GRCh37 |
47 | 66 |
There are 106 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 7, 2011 | RCV000139206.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024