ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1
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 | |||
BPTF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
670 | 718 | |
AMZ2 | - | - |
GRCh38 GRCh37 |
29 | 42 | |
ARSG | - | - |
GRCh38 GRCh37 |
315 | 464 | |
C17orf58 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
FAM20A | - | - |
GRCh38 GRCh37 |
97 | 246 | |
KPNA2 | - | - |
GRCh38 GRCh37 |
18 | 35 | |
LINC00674 | - | - | - | GRCh38 | - | 5 |
LINC01482 | - | - | - | GRCh38 | - | 4 |
LOC101928045 | - | - | - | GRCh38 | - | 11 |
LOC112533662 | - | - | - | GRCh38 | - | 3 |
There are 54 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 20, 2011 | RCV000138379.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024