ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3
Germline
Classification
(1)
Benign
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 | |||
ALDOC | - | - |
GRCh38 GRCh37 |
21 | 32 | |
BLTP2 | - | - |
GRCh38 GRCh37 |
92 | 112 | |
DHRS13 | - | - |
GRCh38 GRCh37 |
24 | 39 | |
ERAL1 | - | - |
GRCh38 GRCh37 |
22 | 47 | |
FAM222B | - | - | - |
GRCh38 GRCh37 |
28 | 40 |
FLOT2 | - | - |
GRCh38 GRCh37 |
33 | 45 | |
FOXN1 | - | - |
GRCh38 GRCh37 |
739 | 750 | |
IFT20 | - | - |
GRCh38 GRCh37 |
11 | 21 | |
LOC112529902 | - | - | - | GRCh38 | - | 1 |
LOC112529903 | - | - | - | GRCh38 | - | 2 |
There are 80 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Oct 19, 2010 | RCV000136494.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023