ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.2-13.31(chr22:43471921-44241041)x1
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 | |||
BIK | - | - |
GRCh38 GRCh37 |
15 | 64 | |
EFCAB6 | - | - |
GRCh38 GRCh37 |
106 | 165 | |
MCAT | - | - |
GRCh38 GRCh37 |
24 | 78 | |
MPPED1 | - | - |
GRCh38 GRCh37 |
13 | 62 | |
SCUBE1 | - | - |
GRCh38 GRCh37 |
72 | 123 | |
SULT4A1 | - | - |
GRCh38 GRCh37 |
6 | 58 | |
TSPO | - | - |
GRCh38 GRCh37 |
9 | 58 | |
TTLL1 | - | - |
GRCh38 GRCh37 |
14 | 74 | |
TTLL12 | - | - |
GRCh38 GRCh37 |
61 | 115 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 26, 2019 | RCV001258785.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022