ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)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 | |||
ZNF462 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
416 | 491 | |
ABITRAM | - | - | - |
GRCh38 GRCh37 |
11 | 60 |
ACTL7A | - | - |
GRCh38 GRCh37 |
44 | 84 | |
ACTL7B | - | - |
GRCh38 GRCh37 |
45 | 84 | |
C9orf152 | - | - | - |
GRCh38 GRCh37 |
1 | 37 |
CTNNAL1 | - | - |
GRCh38 GRCh37 |
29 | 81 | |
DNAJC25 | - | - | - |
GRCh38 GRCh37 |
- | 38 |
DNAJC25-GNG10 | - | - | - |
GRCh38 GRCh37 |
- | 39 |
ECPAS | - | - |
GRCh38 GRCh37 |
111 | 171 | |
ELP1 | - | - |
GRCh38 GRCh37 |
2069 | 2113 |
There are 24 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) |
|
Oct 3, 2017 | RCV000683161.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022