ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1
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 |
569 | 636 | |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
194 | 278 | |
CRYL1 | - | - |
GRCh38 GRCh37 |
106 | 203 | |
EEF1AKMT1 | - | - |
GRCh38 GRCh37 |
1 | 52 | |
GJA3 | - | - |
GRCh38 GRCh37 |
244 | 304 | |
IFT88 | - | - |
GRCh38 GRCh37 |
425 | 482 | |
IL17D | - | - |
GRCh38 GRCh37 |
11 | 73 | |
LATS2 | - | - |
GRCh38 GRCh37 |
77 | 130 | |
MICU2 | - | - |
GRCh38 GRCh37 |
34 | 82 | |
MPHOSPH8 | - | - |
GRCh38 GRCh37 |
34 | 93 |
There are 10 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) |
|
Oct 12, 2021 | RCV002475689.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022