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 |
769 | 846 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
19 | 53 | |
ADAT3 | - | - |
GRCh38 GRCh37 |
- | 141 | |
AMH | - | - |
GRCh38 GRCh37 |
140 | 185 | |
AP3D1 | - | - |
GRCh38 GRCh37 |
1141 | 1178 | |
APBA3 | - | - |
GRCh38 GRCh37 |
69 | 93 | |
ATCAY | - | - |
GRCh38 GRCh37 |
192 | 220 | |
ATP8B3 | - | - |
GRCh38 GRCh37 |
133 | 184 | |
BTBD2 | - | - |
GRCh38 GRCh37 |
32 | 76 | |
CACTIN | - | - |
GRCh38 GRCh37 |
17 | 52 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052878.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023