ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3
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 | |||
MAP2K2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
769 | 850 | |
TUBB4A | No evidence available | No evidence available |
GRCh38 GRCh37 |
284 | 312 | |
ACER1 | - | - |
GRCh38 GRCh37 |
17 | 29 | |
ACSBG2 | - | - |
GRCh38 GRCh37 |
- | 52 | |
ACTL9 | - | - |
GRCh38 GRCh37 |
37 | 46 | |
ADAMTS10 | - | - |
GRCh38 GRCh37 |
841 | 852 | |
ADGRE1 | - | - |
GRCh38 GRCh37 |
69 | 83 | |
ALKBH7 | - | - |
GRCh38 GRCh37 |
18 | 31 | |
ANGPTL4 | - | - |
GRCh38 GRCh37 |
37 | 45 | |
ANKRD24 | - | - |
GRCh38 GRCh37 |
87 | 113 |
There are 157 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) |
|
Apr 17, 2018 | RCV000684096.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023