ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:1205244-1479188)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 | |
APC2 | - | - |
GRCh38 GRCh37 |
803 | 891 | |
ATP5F1D | - | - |
GRCh38 GRCh37 |
82 | 159 | |
C19orf25 | - | - | - |
GRCh38 GRCh37 |
2 | 35 |
CBARP | - | - | - |
GRCh38 GRCh37 |
18 | 57 |
CIRBP | - | - |
GRCh38 GRCh37 |
10 | 45 | |
DAZAP1 | - | - |
GRCh38 GRCh37 |
19 | 50 | |
EFNA2 | - | - |
GRCh38 GRCh37 |
10 | 41 | |
FAM174C | - | - | - |
GRCh38 GRCh37 |
- | 33 |
GAMT | - | - |
GRCh38 GRCh37 |
465 | 661 |
There are 4 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) |
|
Nov 11, 2021 | RCV002472605.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022