ClinVar Genomic variation as it relates to human health
NC_000013.10:g.(?_20472281)_(24052335_?)del
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 | |||
GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
562 | 628 | |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
193 | 277 | |
CRYL1 | - | - |
GRCh38 GRCh37 |
106 | 203 | |
EEF1AKMT1 | - | - |
GRCh38 GRCh37 |
1 | 52 | |
FGF9 | - | - |
GRCh38 GRCh37 |
157 | 203 | |
GJA3 | - | - |
GRCh38 GRCh37 |
241 | 301 | |
IFT88 | - | - |
GRCh38 GRCh37 |
421 | 478 | |
IL17D | - | - |
GRCh38 GRCh37 |
11 | 73 | |
LATS2 | - | - |
GRCh38 GRCh37 |
77 | 130 | |
MICU2 | - | - |
GRCh38 GRCh37 |
34 | 82 |
There are 8 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) |
|
Feb 20, 2023 | RCV004578334.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024