ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)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 | |||
AIPL1 | - | - |
GRCh38 GRCh37 |
557 | 581 | |
ALOX12 | - | - |
GRCh38 GRCh37 |
- | 75 | |
ALOX12-AS1 | - | - | - | GRCh38 | - | 63 |
ALOX15 | - | - |
GRCh38 GRCh37 |
35 | 76 | |
ANKFY1 | - | - |
GRCh38 GRCh37 |
102 | 157 | |
ARRB2 | - | - |
GRCh38 GRCh37 |
11 | 45 | |
ASGR1 | - | - |
GRCh38 GRCh37 |
9 | 38 | |
ASGR2 | - | - |
GRCh38 GRCh37 |
15 | 42 | |
ATP2A3 | - | - |
GRCh38 GRCh37 |
89 | 128 | |
BCL6B | - | - |
GRCh38 GRCh37 |
7 | 30 |
There are 283 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053406.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023