ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
SHANK3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
847 | 1074 | |
ADM2 | - | - |
GRCh38 GRCh37 |
18 | 172 | |
ARSA | - | - |
GRCh38 GRCh37 |
1254 | 1422 | |
CHKB | - | - |
GRCh38 GRCh37 |
3 | 542 | |
CIMAP1B | - | - | - |
GRCh38 GRCh37 |
8 | 129 |
CPT1B | - | - |
GRCh38 GRCh37 |
- | 234 | |
DENND6B | - | - |
GRCh38 GRCh37 |
46 | 197 | |
HDAC10 | - | - |
GRCh38 GRCh37 |
56 | 206 | |
KLHDC7B | - | - |
GRCh38 GRCh37 |
31 | 204 | |
LMF2 | - | - | - |
GRCh38 GRCh37 |
105 | 259 |
There are 12 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 17, 2023 | RCV003485250.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024