ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
557 | 620 | |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
192 | 273 | |
CRYL1 | - | - |
GRCh38 GRCh37 |
104 | 198 | |
EEF1AKMT1 | - | - |
GRCh38 GRCh37 |
1 | 51 | |
FGF9 | - | - |
GRCh38 GRCh37 |
157 | 202 | |
GJA3 | - | - |
GRCh38 GRCh37 |
207 | 265 | |
IFT88 | - | - |
GRCh38 GRCh37 |
418 | 473 | |
IL17D | - | - |
GRCh38 GRCh37 |
11 | 72 | |
LATS2 | - | - |
GRCh38 GRCh37 |
69 | 121 | |
LINC00367 | - | - | - | GRCh38 | - | 21 |
There are 108 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 19, 2013 | RCV000142006.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024