ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1
Germline
Classification
(1)
Pathogenic
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 | |||
SOX10 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 437 | |
ANKRD54 | - | - |
GRCh38 GRCh37 |
15 | 48 | |
BAIAP2L2 | - | - |
GRCh38 GRCh37 |
63 | 90 | |
C22orf23 | - | - |
GRCh38 GRCh37 |
2 | 30 | |
CSNK1E | - | - |
GRCh38 GRCh37 |
- | 41 | |
DDX17 | - | - |
GRCh38 GRCh37 |
3 | 28 | |
DMC1 | - | - |
GRCh38 GRCh37 |
15 | 40 | |
EIF3L | - | - |
GRCh38 GRCh37 |
13 | 39 | |
GALR3 | - | - |
GRCh38 GRCh37 |
22 | 48 | |
GCAT | - | - |
GRCh38 GRCh37 |
41 | 69 |
There are 17 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 21, 2018 | RCV001007501.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022