ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3
Germline
Classification
(1)
Likely 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 |
- | 415 | |
ANKRD54 | - | - |
GRCh38 GRCh37 |
10 | 42 | |
APOBEC3A | - | - |
GRCh38 GRCh37 |
7 | 31 | |
APOBEC3B | - | - |
GRCh38 GRCh37 |
12 | 41 | |
APOBEC3C | - | - |
GRCh38 GRCh37 |
12 | 30 | |
APOBEC3D | - | - |
GRCh38 GRCh37 |
20 | 39 | |
APOBEC3F | - | - |
GRCh38 GRCh37 |
15 | 40 | |
APOL1 | - | - |
GRCh38 GRCh37 |
145 | 171 | |
APOL2 | - | - |
GRCh38 GRCh37 |
27 | 52 | |
APOL3 | - | - |
GRCh38 GRCh37 |
27 | 51 |
There are 68 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 9, 2015 | RCV000512385.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023