ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:260911-3200875)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 |
2312 | 2580 | |
ELANE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
544 | 586 | |
GRIN3B | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
91 | 131 | |
ABCA7 | - | - |
GRCh38 GRCh37 |
252 | 297 | |
ABHD17A | - | - |
GRCh38 GRCh37 |
9 | 43 | |
ADAMTSL5 | - | - | - |
GRCh38 GRCh37 |
35 | 65 |
ADAT3 | - | - |
GRCh38 GRCh37 |
- | 126 | |
AMH | - | - |
GRCh38 GRCh37 |
134 | 179 | |
AP3D1 | - | - |
GRCh38 GRCh37 |
1132 | 1169 | |
APC2 | - | - |
GRCh38 GRCh37 |
738 | 822 |
There are 94 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) |
|
Jan 5, 2018 | RCV000684094.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023