ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_241661128)_(244218672_?)del
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 | |||
FH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2027 | 2113 | |
ZBTB18 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
251 | 346 | |
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
177 | 350 | |
CEP170 | - | - |
GRCh38 GRCh38 GRCh37 |
106 | 215 | |
CHML | - | - |
GRCh38 GRCh37 |
- | 134 | |
EXO1 | - | - |
GRCh38 GRCh37 |
76 | 161 | |
KMO | - | - |
GRCh38 GRCh37 |
26 | 107 | |
MAP1LC3C | - | - |
GRCh38 GRCh37 |
8 | 90 | |
OPN3 | - | - |
GRCh38 GRCh37 |
17 | 153 | |
PLD5 | - | - | - |
GRCh38 GRCh37 |
28 | 120 |
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) |
|
Sep 19, 2022 | RCV003114057.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023