ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)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 | |||
AASDH | - | - |
GRCh38 GRCh37 |
41 | 67 | |
ADGRL3 | - | - |
GRCh38 GRCh37 |
40 | 62 | |
ADGRL3-AS1 | - | - | - | GRCh38 | - | 8 |
ARL9 | - | - |
GRCh38 GRCh37 |
3 | 27 | |
ATP10D | - | - |
GRCh38 GRCh37 |
62 | 88 | |
CEP135 | - | - |
GRCh38 GRCh37 |
426 | 451 | |
CHIC2 | - | - |
GRCh38 GRCh37 |
5 | 28 | |
CLOCK | - | - |
GRCh38 GRCh37 |
16 | 54 | |
CNGA1 | - | - |
GRCh38 GRCh37 |
13 | 496 | |
COMMD8 | - | - |
GRCh38 GRCh37 |
6 | 32 |
There are 236 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050683.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023