ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)
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 |
936 | 973 | |
ANAPC4 | - | - |
GRCh38 GRCh37 |
34 | 68 | |
ARAP2 | - | - |
GRCh38 GRCh37 |
112 | 132 | |
CCDC149 | - | - | - |
GRCh38 GRCh37 |
32 | 64 |
CCKAR | - | - |
GRCh38 GRCh37 |
31 | 64 | |
DHX15 | - | - |
GRCh38 GRCh37 |
20 | 53 | |
DTHD1 | - | - |
GRCh38 GRCh37 |
451 | 471 | |
GBA3 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 68 | |
KCNIP4 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 56 | |
LGI2 | - | - |
GRCh38 GRCh37 |
34 | 65 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053409.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023