ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_188118572)_(192126012_?)dup
Germline
Classification
(2)
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 | |||
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
239 | 289 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
685 | 746 | |
CCDC50 | - | - |
GRCh38 GRCh37 |
209 | 281 | |
CLDN1 | - | - |
GRCh38 GRCh37 |
1 | 126 | |
CLDN16 | - | - |
GRCh38 GRCh37 |
213 | 340 | |
GMNC | - | - |
GRCh38 GRCh37 |
21 | 63 | |
IL1RAP | - | - |
GRCh38 GRCh37 |
22 | 63 | |
LPP | - | - |
GRCh38 GRCh37 |
106 | 158 | |
MIR28 | - | - |
GRCh38 GRCh37 |
- | 45 | |
OSTN | - | - |
GRCh38 GRCh37 |
7 | 56 |
There are 5 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) |
|
Aug 12, 2022 | RCV003107731.3 | |
no classifications from unflagged records (1) |
|
- | RCV003107730.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023