ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)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 | |||
PAFAH1B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
521 | 604 | |
ABR | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
48 | 174 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
6 | 109 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
69 | 206 | |
ALOX15 | - | - |
GRCh38 GRCh37 |
42 | 83 | |
ANKFY1 | - | - |
GRCh38 GRCh37 |
124 | 180 | |
ARRB2 | - | - |
GRCh38 GRCh37 |
14 | 48 | |
ASPA | - | - |
GRCh38 GRCh37 |
13 | 475 | |
ATP2A3 | - | - |
GRCh38 GRCh37 |
103 | 144 | |
BHLHA9 | - | - |
GRCh38 GRCh37 |
57 | 181 |
There are 108 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) |
|
- | RCV003987214.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024