ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1
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 |
2368 | 2642 | |
ELANE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
549 | 591 | |
GRIN3B | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
119 | 160 | |
ABCA7 | - | - |
GRCh38 GRCh37 |
292 | 338 | |
ARHGAP45 | - | - |
GRCh38 GRCh37 |
24 | 68 | |
ARID3A | - | - |
GRCh38 GRCh37 |
47 | 88 | |
ATP5F1D | - | - |
GRCh38 GRCh37 |
79 | 156 | |
AZU1 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 59 | |
CBARP | - | - | - |
GRCh38 GRCh37 |
14 | 53 |
CBARP-DT | - | - | - | GRCh38 | - | 12 |
There are 128 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) |
|
Oct 1, 2010 | RCV000136733.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024