ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
AKAP10 | - | - |
GRCh38 GRCh37 |
40 | 153 | |
ALDH3A1 | - | - |
GRCh38 GRCh37 |
29 | 140 | |
ALDH3A2 | - | - |
GRCh38 GRCh37 |
626 | 748 | |
B9D1 | - | - |
GRCh38 GRCh37 |
198 | 335 | |
CCDC144NL-AS1 | - | - | - | GRCh38 | 10 | 16 |
CDRT15L2 | - | - | - |
GRCh38 GRCh37 |
27 | 50 |
DHRS7B | - | - |
GRCh38 GRCh37 |
19 | 33 | |
EPN2 | - | - |
GRCh38 GRCh37 |
22 | 131 | |
EPN2-AS1 | - | - | - | GRCh38 | - | 53 |
EPN2-IT1 | - | - | - | GRCh38 | - | 53 |
There are 108 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000054009.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023