ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:3076808-4796782)
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 | |
ANKRD24 | - | - | - |
GRCh38 GRCh37 |
87 | 112 |
APBA3 | - | - |
GRCh38 GRCh37 |
69 | 93 | |
ATCAY | - | - |
GRCh38 GRCh37 |
192 | 220 | |
CACTIN | - | - |
GRCh38 GRCh37 |
17 | 52 | |
CELF5 | - | - |
GRCh38 GRCh37 |
14 | 40 | |
CHAF1A | - | - |
GRCh38 GRCh37 |
65 | 120 | |
CREB3L3 | - | - |
GRCh38 GRCh37 |
175 | 234 | |
DAPK3 | - | - |
GRCh38 GRCh37 |
21 | 48 | |
DOHH | - | - |
GRCh38 GRCh37 |
33 | 58 |
There are 40 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767742.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022