ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3(chr17:1742705-2952264)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 |
528 | 613 | |
CCDC92B | - | - | - | GRCh38 | - | 25 |
CLUH | - | - |
GRCh38 GRCh37 |
92 | 162 | |
DPH1 | - | - |
GRCh38 GRCh37 |
94 | 192 | |
HIC1 | - | - |
GRCh38 GRCh37 |
19 | 119 | |
LOC101927839 | - | - | - | GRCh38 | - | 28 |
LOC105371485 | - | - | - | GRCh38 | - | 29 |
LOC105371490 | - | - | - | GRCh38 | - | 27 |
LOC105371592 | - | - | - | GRCh38 | - | 25 |
LOC107988047 | - | - | - | GRCh38 | - | 29 |
There are 114 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Mar 9, 2012 | RCV000138203.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024