ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q25.3(chr17:81401966-83084062)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 | |||
ACTG1 | - | - |
GRCh38 GRCh38 GRCh37 |
528 | 576 | |
ALYREF | - | - |
GRCh38 GRCh37 |
- | 27 | |
ANAPC11 | - | - |
GRCh38 GRCh37 |
4 | 31 | |
ARHGDIA | - | - |
GRCh38 GRCh37 |
32 | 79 | |
ARL16 | - | - |
GRCh38 GRCh37 |
12 | 41 | |
ASPSCR1 | - | - |
GRCh38 GRCh37 |
45 | 71 | |
B3GNTL1 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 106 | |
BAHCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 34 | |
CCDC137 | - | - |
GRCh38 GRCh37 |
19 | 43 | |
CCDC57 | - | - | - |
GRCh38 GRCh37 |
62 | 90 |
There are 218 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 19, 2013 | RCV000142007.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024