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 |
3363 | 3462 | |
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
452 | 563 | |
ACADVL | - | - |
GRCh38 GRCh37 |
1722 | 1930 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 82 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
306 | 363 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
62 | 95 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
215 | 294 | |
ASGR1 | - | - |
GRCh38 GRCh37 |
15 | 46 | |
ATP1B2 | - | - |
GRCh38 GRCh37 |
17 | 46 | |
CD68 | - | - |
GRCh38 GRCh37 |
30 | 61 |
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