ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682)
Germline
Classification
(1)
Uncertain significance
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 | |||
GPHN | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
742 | 1859 | |
ARG2 | - | - |
GRCh38 GRCh37 |
- | 50 | |
ATP6V1D | - | - |
GRCh38 GRCh37 |
- | 24 | |
EIF2S1 | - | - |
GRCh38 GRCh37 |
- | 22 | |
GARIN2 | - | - |
GRCh38 GRCh37 |
- | 50 | |
PALS1 | - | - |
GRCh38 GRCh37 |
- | 52 | |
PIGH | - | - |
GRCh38 GRCh37 |
- | 37 | |
PLEK2 | - | - |
GRCh38 GRCh37 |
- | 42 | |
PLEKHH1 | - | - | - |
GRCh38 GRCh37 |
- | 104 |
RDH11 | - | - |
GRCh38 GRCh37 |
- | 220 |
There are 2 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053109.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022