ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:260912-1163934)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 | |||
ELANE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
551 | 593 | |
GRIN3B | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
135 | 176 | |
ABCA7 | - | - |
GRCh38 GRCh37 |
306 | 352 | |
ARHGAP45 | - | - |
GRCh38 GRCh37 |
24 | 68 | |
ARID3A | - | - |
GRCh38 GRCh37 |
52 | 93 | |
AZU1 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 59 | |
BSG | - | - |
GRCh38 GRCh37 |
29 | 61 | |
C2CD4C | - | - |
GRCh38 GRCh37 |
46 | 78 | |
CDC34 | - | - |
GRCh38 GRCh37 |
15 | 48 | |
CFD | - | - |
GRCh38 GRCh38 GRCh37 |
247 | 289 |
There are 28 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 6, 2016 | RCV000239425.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023