ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3
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 | |||
PAFAH1B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
520 | 603 | |
ASPA | - | - |
GRCh38 GRCh37 |
13 | 474 | |
ATP2A3 | - | - |
GRCh38 GRCh37 |
89 | 128 | |
CAMKK1 | - | - |
GRCh38 GRCh37 |
21 | 59 | |
CCDC92B | - | - | - | GRCh38 | - | 25 |
CLUH | - | - |
GRCh38 GRCh37 |
68 | 137 | |
CTNS | - | - |
GRCh38 GRCh37 |
501 | 904 | |
CTNS-AS1 | - | - | - | GRCh38 | - | 316 |
EMC6 | - | - |
GRCh38 GRCh37 |
- | 53 | |
HASPIN | - | - |
GRCh38 GRCh37 |
- | 65 |
There are 158 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) |
|
Sep 21, 2012 | RCV000139738.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023