ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3
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 |
528 | 613 | |
ANKFY1 | - | - |
GRCh38 GRCh37 |
124 | 181 | |
ASPA | - | - |
GRCh38 GRCh37 |
18 | 485 | |
ATP2A3 | - | - |
GRCh38 GRCh37 |
103 | 145 | |
CAMKK1 | - | - |
GRCh38 GRCh37 |
31 | 70 | |
CCDC92B | - | - | - | GRCh38 | - | 25 |
CLUH | - | - |
GRCh38 GRCh37 |
92 | 162 | |
CTNS | - | - |
GRCh38 GRCh37 |
511 | 922 | |
CTNS-AS1 | - | - | - | GRCh38 | - | 322 |
CYB5D2 | - | - | - |
GRCh38 GRCh37 |
22 | 67 |
There are 118 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052456.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024