ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)
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 | |||
ADGRA3 | - | - |
GRCh38 GRCh37 |
930 | 967 | |
DHX15 | - | - |
GRCh38 GRCh37 |
17 | 50 | |
GBA3 | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 67 | |
KCNIP4 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 55 | |
PACRGL | - | - | - |
GRCh38 GRCh37 |
12 | 57 |
PPARGC1A | - | - |
GRCh38 GRCh37 |
52 | 86 | |
SLIT2 | - | - |
GRCh38 GRCh37 |
254 | 297 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767790.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 29, 2023