ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)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 | |||
DLG4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
145 | 307 | |
PAFAH1B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
522 | 605 | |
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3317 | 3412 | |
ABR | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
48 | 174 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
6 | 109 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
69 | 206 | |
ABR-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 38 |
ACADVL | - | - |
GRCh38 GRCh37 |
1715 | 1920 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 75 | |
AIPL1 | - | - |
GRCh38 GRCh37 |
558 | 582 |
There are 643 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Mar 9, 2012 | RCV000138214.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024