ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:1549144-4288720)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 | |||
MAP2K2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
765 | 840 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
9 | 43 | |
ADAT3 | - | - |
GRCh38 GRCh37 |
- | 126 | |
AMH | - | - |
GRCh38 GRCh37 |
134 | 179 | |
ANKRD24 | - | - |
GRCh38 GRCh37 |
65 | 90 | |
AP3D1 | - | - |
GRCh38 GRCh37 |
1132 | 1169 | |
APBA3 | - | - |
GRCh38 GRCh37 |
53 | 77 | |
ATCAY | - | - |
GRCh38 GRCh37 |
185 | 213 | |
ATP8B3 | - | - |
GRCh38 GRCh37 |
102 | 150 | |
BTBD2 | - | - |
GRCh38 GRCh37 |
21 | 64 |
There are 379 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 30, 2010 | RCV000134795.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023