ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
2390 | 2668 | |
ELANE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
551 | 593 | |
MAP2K2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
772 | 853 | |
GRIN3B | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
135 | 176 | |
TUBB4A | No evidence available | No evidence available |
GRCh38 GRCh37 |
288 | 318 | |
ABCA7 | - | - |
GRCh38 GRCh37 |
306 | 352 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
22 | 56 | |
ACER1 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
ACSBG2 | - | - |
GRCh38 GRCh37 |
- | 57 | |
ADAMTSL5 | - | - | - |
GRCh38 GRCh37 |
56 | 86 |
There are 895 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Feb 11, 2011 | RCV000142627.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024