ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)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 |
34 | 160 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
3 | 106 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
68 | 205 | |
ABR-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 38 |
AIPL1 | - | - |
GRCh38 GRCh37 |
557 | 581 | |
ALOX15 | - | - |
GRCh38 GRCh37 |
35 | 76 | |
ANKFY1 | - | - |
GRCh38 GRCh37 |
102 | 157 | |
ARRB2 | - | - |
GRCh38 GRCh37 |
11 | 45 | |
ASPA | - | - |
GRCh38 GRCh37 |
13 | 474 |
There are 491 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) |
|
Jun 30, 2010 | RCV000134135.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023