ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.1(chr22:37447222-39103680)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 |
- | 417 | |
ANKRD54 | - | - |
GRCh38 GRCh37 |
12 | 45 | |
APOBEC3A | - | - |
GRCh38 GRCh37 |
7 | 31 | |
APOBEC3B | - | - |
GRCh38 GRCh37 |
15 | 46 | |
APOBEC3B-AS1 | - | - | - | GRCh38 | - | 13 |
APOBEC3C | - | - |
GRCh38 GRCh37 |
17 | 35 | |
APOBEC3D | - | - |
GRCh38 GRCh37 |
31 | 50 | |
APOBEC3F | - | - |
GRCh38 GRCh37 |
19 | 44 | |
APOBEC3G | - | - |
GRCh38 GRCh37 |
19 | 35 | |
APOBEC3H | - | - |
GRCh38 GRCh37 |
19 | 35 |
There are 169 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 14, 2013 | RCV000141783.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024