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 |
769 | 850 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
19 | 53 | |
ADAT3 | - | - |
GRCh38 GRCh37 |
- | 141 | |
AMH | - | - |
GRCh38 GRCh37 |
140 | 185 | |
ANKRD24 | - | - |
GRCh38 GRCh37 |
87 | 113 | |
AP3D1 | - | - |
GRCh38 GRCh37 |
1143 | 1180 | |
APBA3 | - | - |
GRCh38 GRCh37 |
69 | 94 | |
ATCAY | - | - |
GRCh38 GRCh37 |
192 | 222 | |
ATP8B3 | - | - |
GRCh38 GRCh37 |
133 | 184 | |
BTBD2 | - | - |
GRCh38 GRCh37 |
32 | 76 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 30, 2010 | RCV000134795.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024