ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1
Germline
Classification
(1)
Pathogenic
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 | |||
DLG4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
145 | 307 | |
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3317 | 3412 | |
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
428 | 531 | |
ACADVL | - | - |
GRCh38 GRCh37 |
1715 | 1920 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 75 | |
AIPL1 | - | - |
GRCh38 GRCh37 |
558 | 582 | |
ALOX12 | - | - |
GRCh38 GRCh37 |
- | 91 | |
ALOX12-AS1 | - | - | - | GRCh38 | - | 79 |
ASGR1 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
ASGR2 | - | - |
GRCh38 GRCh37 |
22 | 49 |
There are 221 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) |
|
Aug 12, 2011 | RCV000051043.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024