ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)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 | |||
CEBPA | No evidence available | No evidence available |
GRCh38 GRCh37 |
932 | 1002 | |
PIK3R2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
354 | 428 | |
ABHD8 | - | - | - |
GRCh38 GRCh37 |
- | 36 |
ANKLE1 | - | - |
GRCh38 GRCh37 |
75 | 93 | |
ANKRD27 | - | - |
GRCh38 GRCh37 |
66 | 82 | |
ANO8 | - | - |
GRCh38 GRCh37 |
78 | 105 | |
ARMC6 | - | - | - |
GRCh38 GRCh37 |
32 | 42 |
ARRDC2 | - | - | - |
GRCh38 GRCh37 |
24 | 38 |
ATP13A1 | - | - |
GRCh38 GRCh37 |
81 | 109 | |
B3GNT3 | - | - |
GRCh38 GRCh37 |
24 | 34 |
There are 617 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 | RCV000050635.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024