ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)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 | |||
MAP2K2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
765 | 840 | |
TUBB4A | No evidence available | No evidence available |
GRCh38 GRCh37 |
281 | 308 | |
ACER1 | - | - |
GRCh38 GRCh37 |
- | 24 | |
ACSBG2 | - | - |
GRCh38 GRCh37 |
- | - | |
ACTL9 | - | - |
GRCh38 GRCh37 |
- | 39 | |
ADAMTS10 | - | - |
GRCh38 GRCh37 |
831 | 842 | |
ADGRE1 | - | - |
GRCh38 GRCh37 |
- | 61 | |
ALKBH7 | - | - |
GRCh38 GRCh37 |
14 | 26 | |
AMH | - | - |
GRCh38 GRCh37 |
134 | 179 | |
ANGPTL4 | - | - |
GRCh38 GRCh37 |
32 | 40 |
There are 802 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052879.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023