ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
CHAMP1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
235 | 356 | |
ABHD13 | - | - | - |
GRCh38 GRCh37 |
22 | 140 |
ADPRHL1 | - | - |
GRCh38 GRCh37 |
50 | 172 | |
ANKRD10 | - | - | - |
GRCh38 GRCh37 |
23 | 136 |
ARGLU1 | - | - |
GRCh38 GRCh37 |
13 | 124 | |
ARGLU1-DT | - | - | - | GRCh38 | - | 41 |
ARHGEF7 | - | - |
GRCh38 GRCh37 |
44 | 167 | |
ARHGEF7-AS1 | - | - | - | GRCh38 | - | 43 |
ARHGEF7-AS2 | - | - | - | GRCh38 | - | 45 |
ATP11A | - | - |
GRCh38 GRCh37 |
140 | 272 |
There are 304 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 24, 2023 | RCV003327641.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024