ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)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 | |||
ZNF462 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
367 | 437 | |
ABCA1 | - | - |
GRCh38 GRCh37 |
1131 | 1442 | |
ABITRAM | - | - | - |
GRCh38 GRCh37 |
10 | 59 |
ACTL7A | - | - |
GRCh38 GRCh37 |
39 | 79 | |
ACTL7B | - | - |
GRCh38 GRCh37 |
35 | 74 | |
C9orf152 | - | - | - |
GRCh38 GRCh37 |
1 | 37 |
CTNNAL1 | - | - |
GRCh38 GRCh37 |
28 | 79 | |
DNAJC25 | - | - | - |
GRCh38 GRCh37 |
- | 36 |
DNAJC25-GNG10 | - | - | - |
GRCh38 GRCh37 |
- | 37 |
ECPAS | - | - |
GRCh38 GRCh37 |
95 | 151 |
There are 36 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) |
|
May 14, 2018 | RCV000683163.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022