ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:1565575-4108128)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 |
779 | 860 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
22 | 56 | |
ADAT3 | - | - |
GRCh38 GRCh37 |
- | 153 | |
AMH | - | - |
GRCh38 GRCh37 |
150 | 197 | |
AP3D1 | - | - |
GRCh38 GRCh37 |
1147 | 1184 | |
APBA3 | - | - |
GRCh38 GRCh37 |
76 | 101 | |
ATCAY | - | - |
GRCh38 GRCh37 |
197 | 227 | |
ATP8B3 | - | - |
GRCh38 GRCh37 |
151 | 203 | |
BTBD2 | - | - |
GRCh38 GRCh37 |
35 | 81 | |
CACTIN | - | - |
GRCh38 GRCh37 |
21 | 57 |
There are 354 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 | RCV000052878.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024