ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3
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 |
2312 | 2580 | |
ELANE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
544 | - | |
MAP2K2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
765 | 840 | |
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 | |
ANKRD24 | - | - |
GRCh38 GRCh37 |
65 | 90 |
There are 679 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) |
|
Aug 12, 2011 | RCV000052575.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023