ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)
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 | |||
AKAP8 | - | - |
GRCh38 GRCh37 |
80 | 100 | |
AKAP8L | - | - |
GRCh38 GRCh37 |
24 | 49 | |
AP1M1 | - | - |
GRCh38 GRCh37 |
11 | 28 | |
BRD4 | - | - |
GRCh38 GRCh37 |
606 | 626 | |
CASP14 | - | - |
GRCh38 GRCh37 |
44 | 60 | |
CIB3 | - | - |
GRCh38 GRCh37 |
12 | 29 | |
CYP4F11 | - | - |
GRCh38 GRCh37 |
28 | 44 | |
CYP4F12 | - | - |
GRCh38 GRCh37 |
26 | 44 | |
CYP4F2 | - | - |
GRCh38 GRCh37 |
41 | 66 | |
CYP4F22 | - | - |
GRCh38 GRCh37 |
218 | 236 |
There are 97 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 14, 2023 | RCV003223562.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023