ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1
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 | |||
PAFAH1B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
528 | 613 | |
ABR | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
54 | 183 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 114 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
69 | 209 | |
ABR-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 38 |
ANKFY1 | - | - |
GRCh38 GRCh37 |
128 | 185 | |
ASPA | - | - |
GRCh38 GRCh37 |
18 | 489 | |
ATP2A3 | - | - |
GRCh38 GRCh37 |
112 | 154 | |
BHLHA9 | - | - |
GRCh38 GRCh37 |
59 | 186 | |
CAMKK1 | - | - |
GRCh38 GRCh37 |
37 | 76 |
There are 295 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 18, 2010 | RCV000142440.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024