ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3(chr17:1218064-2619473)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 | |||
PAFAH1B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
522 | 605 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
6 | 109 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
69 | 206 | |
CLUH | - | - |
GRCh38 GRCh37 |
92 | 161 | |
CRK | - | - |
GRCh38 GRCh38 GRCh37 |
12 | 124 | |
DPH1 | - | - |
GRCh38 GRCh37 |
94 | 190 | |
HIC1 | - | - |
GRCh38 GRCh37 |
19 | 117 | |
INPP5K | - | - |
GRCh38 GRCh37 |
95 | 202 | |
METTL16 | - | - | - |
GRCh38 GRCh37 |
22 | 99 |
MIR132 | - | - |
GRCh38 GRCh37 |
- | 66 |
There are 20 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240453.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023