ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)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 | |||
CRYBA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
68 | 82 | |
ABHD15 | - | - |
GRCh38 GRCh37 |
24 | 45 | |
ALDOC | - | - |
GRCh38 GRCh37 |
21 | 32 | |
ANKRD13B | - | - |
GRCh38 GRCh37 |
26 | 37 | |
BLTP2 | - | - |
GRCh38 GRCh37 |
92 | 112 | |
CORO6 | - | - | - |
GRCh38 GRCh37 |
36 | 47 |
DHRS13 | - | - |
GRCh38 GRCh37 |
24 | 39 | |
EFCAB5 | - | - | - |
GRCh38 GRCh37 |
106 | 119 |
ERAL1 | - | - |
GRCh38 GRCh37 |
22 | 47 | |
FAM222B | - | - | - |
GRCh38 GRCh37 |
28 | 40 |
There are 41 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 8, 2018 | RCV001006886.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023