ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:275925-1892276)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 |
2343 | 2615 | |
ELANE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
547 | 589 | |
GRIN3B | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
118 | 158 | |
ABCA7 | - | - |
GRCh38 GRCh37 |
292 | 337 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
19 | 53 | |
ADAMTSL5 | - | - | - |
GRCh38 GRCh37 |
50 | 80 |
APC2 | - | - |
GRCh38 GRCh37 |
773 | 860 | |
ARHGAP45 | - | - |
GRCh38 GRCh37 |
24 | 67 | |
ARID3A | - | - |
GRCh38 GRCh37 |
46 | 86 | |
ATP5F1D | - | - |
GRCh38 GRCh37 |
78 | 154 |
There are 293 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 30, 2011 | RCV000141358.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024