ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)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 |
2343 | 2615 | |
ELANE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
547 | 589 | |
MAP2K2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
769 | 846 | |
GRIN3B | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
118 | 158 | |
TUBB4A | No evidence available | No evidence available |
GRCh38 GRCh37 |
282 | 309 | |
ABCA7 | - | - |
GRCh38 GRCh37 |
292 | 337 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
19 | 53 | |
ACER1 | - | - |
GRCh38 GRCh37 |
17 | 28 | |
ACSBG2 | - | - |
GRCh38 GRCh37 |
- | 51 | |
ADAMTSL5 | - | - | - |
GRCh38 GRCh37 |
50 | 80 |
There are 194 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) |
|
Feb 15, 2023 | RCV003485190.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024