ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1
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 | |
ANKRD24 | - | - |
GRCh38 GRCh37 |
65 | 90 | |
APBA3 | - | - |
GRCh38 GRCh37 |
53 | 77 | |
ATCAY | - | - |
GRCh38 GRCh37 |
185 | 213 | |
CACTIN | - | - |
GRCh38 GRCh37 |
11 | 42 | |
CACTIN-AS1 | - | - | - | GRCh38 | - | 18 |
CHAF1A | - | - |
GRCh38 GRCh37 |
43 | 89 | |
CREB3L3 | - | - |
GRCh38 GRCh37 |
171 | 230 | |
DAPK3 | - | - |
GRCh38 GRCh37 |
15 | 42 | |
DPP9 | - | - |
GRCh38 GRCh37 |
22 | 86 |
There are 134 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 | RCV000053943.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023