ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:259395-3152419)
Germline
Classification
(1)
Likely 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 |
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 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
19 | 53 | |
ADAMTSL5 | - | - | - |
GRCh38 GRCh37 |
50 | 80 |
ADAT3 | - | - |
GRCh38 GRCh37 |
- | 141 | |
AMH | - | - |
GRCh38 GRCh37 |
140 | 185 | |
AP3D1 | - | - |
GRCh38 GRCh37 |
1143 | 1180 | |
APC2 | - | - |
GRCh38 GRCh37 |
777 | 864 |
There are 92 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 1, 2017 | RCV000626520.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023