ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q11.2(chr2:98787057-100785053)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 | |||
AFF3 | - | - |
GRCh38 GRCh37 |
147 | 169 | |
C2orf15 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
CHST10 | - | - |
GRCh38 GRCh37 |
23 | 46 | |
CRACDL | - | - | - |
GRCh38 GRCh37 |
74 | 94 |
EIF5B | - | - |
GRCh38 GRCh37 |
46 | 69 | |
FRA2A | - | - | - | GRCh38 | - | 7 |
LINC01104 | - | - | - | GRCh38 | - | 7 |
LINC01849 | - | - | - | GRCh38 | - | 11 |
LIPT1 | - | - |
GRCh38 GRCh37 |
14 | 131 | |
LOC120961774 | - | - | - | GRCh38 | - | 7 |
There are 48 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054057.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024