ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
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 | |||
PDE4D | No evidence available | No evidence available |
GRCh38 GRCh37 |
521 | 547 | |
ADAMTS6 | - | - |
GRCh38 GRCh37 |
46 | 66 | |
AK6 | - | - |
GRCh38 GRCh38 GRCh38 |
- | 12 | |
BDP1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
399 | 411 | |
BTF3 | - | - |
GRCh38 GRCh37 |
4 | 13 | |
BTF3-DT | - | - | - | GRCh38 | - | 2 |
CARTPT | - | - |
GRCh38 GRCh37 |
19 | 31 | |
CCDC125 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 42 | |
CCNB1 | - | - |
GRCh38 GRCh37 |
16 | 32 | |
CD180 | - | - |
GRCh38 GRCh37 |
51 | 70 |
There are 257 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV000984869.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 20, 2023