ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:916637-1275315)x1
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 | |
GRIN3B | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
135 | 176 | |
ABCA7 | - | - |
GRCh38 GRCh37 |
311 | 357 | |
ARHGAP45 | - | - |
GRCh38 GRCh37 |
24 | 68 | |
ARID3A | - | - |
GRCh38 GRCh37 |
52 | 93 | |
ATP5F1D | - | - |
GRCh38 GRCh37 |
82 | 159 | |
CBARP | - | - | - |
GRCh38 GRCh37 |
18 | 57 |
CIRBP | - | - |
GRCh38 GRCh37 |
10 | 45 | |
CNN2 | - | - |
GRCh38 GRCh37 |
21 | 61 | |
GPX4 | - | - |
GRCh38 GRCh37 |
136 | 203 |
There are 6 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) |
|
May 15, 2018 | RCV004577439.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024