ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1
Germline
Classification
(1)
Likely 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 |
565 | 632 | |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
193 | 277 | |
CRYL1 | - | - |
GRCh38 GRCh37 |
106 | 203 | |
EEF1AKMT1 | - | - |
GRCh38 GRCh37 |
1 | 52 | |
GJA3 | - | - |
GRCh38 GRCh37 |
241 | 301 | |
IFT88 | - | - |
GRCh38 GRCh37 |
421 | 478 | |
IL17D | - | - |
GRCh38 GRCh37 |
11 | 73 | |
LATS2 | - | - |
GRCh38 GRCh37 |
77 | 130 | |
MRPL57 | - | - |
GRCh38 GRCh37 |
4 | 65 | |
SAP18 | - | - |
GRCh38 GRCh37 |
- | 59 |
There are 3 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 12, 2017 | RCV000683544.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022