ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3
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 | |||
TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3323 | 3421 | |
KDM6B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
428 | 532 | |
ACADVL | - | - |
GRCh38 GRCh37 |
1715 | 1923 | |
ACAP1 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 77 | |
ALOX12 | - | - |
GRCh38 GRCh37 |
- | 92 | |
ALOX12B | - | - |
GRCh38 GRCh37 |
301 | 357 | |
ALOX15B | - | - |
GRCh38 GRCh37 |
58 | 91 | |
ALOXE3 | - | - |
GRCh38 GRCh37 |
212 | 290 | |
ASGR1 | - | - |
GRCh38 GRCh37 |
11 | 42 | |
ASGR2 | - | - |
GRCh38 GRCh37 |
22 | 51 |
There are 66 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) |
|
Sep 6, 2019 | RCV001259299.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023