ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3(chr17:1361431-2573023)
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 |
528 | 613 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 114 | |
DPH1 | - | - |
GRCh38 GRCh37 |
102 | 203 | |
HIC1 | - | - |
GRCh38 GRCh37 |
20 | 127 | |
INPP5K | - | - |
GRCh38 GRCh37 |
100 | 210 | |
METTL16 | - | - | - |
GRCh38 GRCh37 |
24 | 103 |
MIR132 | - | - |
GRCh38 GRCh37 |
- | 68 | |
MIR212 | - | - |
GRCh38 GRCh37 |
- | 68 | |
MIR22 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 86 | |
MNT | - | - |
GRCh38 GRCh37 |
29 | 96 |
There are 17 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 1, 2017 | RCV000626514.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024