ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)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 | |||
PAFAH1B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
520 | 603 | |
ABR | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
69 | 200 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
3 | 112 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
68 | 204 | |
ABR-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 38 |
ALOX15 | - | - |
GRCh38 GRCh37 |
35 | 78 | |
ANKFY1 | - | - |
GRCh38 GRCh37 |
102 | 162 | |
ARRB2 | - | - |
GRCh38 GRCh37 |
11 | 47 | |
ASPA | - | - |
GRCh38 GRCh37 |
13 | 476 | |
ATP2A3 | - | - |
GRCh38 GRCh37 |
89 | 132 |
There are 456 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) |
|
Apr 23, 2013 | RCV000141658.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023