ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.31(chr22:44832749-46353315)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 | |||
ARHGAP8 | - | - |
GRCh38 GRCh37 |
- | 162 | |
ATXN10 | - | - |
GRCh38 GRCh37 |
36 | 124 | |
CDPF1 | - | - | - |
GRCh38 GRCh37 |
8 | 94 |
FAM118A | - | - | - |
GRCh38 GRCh37 |
19 | 90 |
FBLN1 | - | - |
GRCh38 GRCh37 |
224 | 298 | |
GTSE1 | - | - |
GRCh38 GRCh37 |
66 | 158 | |
GTSE1-DT | - | - | - | GRCh38 | - | 42 |
KIAA0930 | - | - |
GRCh38 GRCh37 |
24 | 95 | |
LINC00899 | - | - | - | GRCh38 | - | 36 |
LINC01589 | - | - | - | GRCh38 | - | 32 |
There are 97 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
|
Uncertain significance (1) |
|
Jul 1, 2013 | RCV000143486.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024