ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.1(chr17:7020054-8086290)
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 | |||
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3308 | 3403 | |
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
427 | 530 | |
ACADVL | - | - |
GRCh38 GRCh37 |
1708 | 1913 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 75 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
300 | 355 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
58 | 90 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
212 | 289 | |
ASGR1 | - | - |
GRCh38 GRCh37 |
11 | 40 | |
ATP1B2 | - | - |
GRCh38 GRCh37 |
13 | 41 | |
CD68 | - | - |
GRCh38 GRCh37 |
26 | 56 |
There are 56 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002052585.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023