ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q11.2(chr2:99356669-99984607)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
C2orf15 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
CRACDL | - | - | - |
GRCh38 GRCh37 |
74 | 94 |
EIF5B | - | - |
GRCh38 GRCh37 |
46 | 69 | |
LIPT1 | - | - |
GRCh38 GRCh37 |
14 | 131 | |
LYG1 | - | - | - |
GRCh38 GRCh37 |
10 | 35 |
LYG2 | - | - |
GRCh38 GRCh37 |
16 | 41 | |
MITD1 | - | - | - |
GRCh38 GRCh37 |
8 | 125 |
MRPL30 | - | - |
GRCh38 GRCh37 |
9 | 31 | |
TSGA10 | - | - |
GRCh38 GRCh37 |
50 | 77 | |
TXNDC9 | - | - |
GRCh38 GRCh37 |
9 | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 14, 2020 | RCV001259644.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022