ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:260912-4384674)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 | |||
STK11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2394 | 2672 | |
ELANE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
557 | 600 | |
MAP2K2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
779 | 860 | |
GRIN3B | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
135 | 176 | |
ABCA7 | - | - |
GRCh38 GRCh37 |
311 | 357 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
22 | 56 | |
ADAMTSL5 | - | - | - |
GRCh38 GRCh37 |
56 | 86 |
ADAT3 | - | - |
GRCh38 GRCh37 |
- | 153 | |
AMH | - | - |
GRCh38 GRCh37 |
150 | 197 | |
ANKRD24 | - | - |
GRCh38 GRCh37 |
91 | 117 |
There are 130 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 1, 2018 | RCV001007443.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024