ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3
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 | |||
ALG11 | - | - |
GRCh38 GRCh37 |
72 | 258 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2850 | 2991 | |
CCDC70 | - | - | - |
GRCh38 GRCh37 |
- | 80 |
CKAP2 | - | - |
GRCh38 GRCh37 |
34 | 97 | |
CNMD | - | - |
GRCh38 GRCh37 |
6 | 73 | |
DHRS12 | - | - |
GRCh38 GRCh37 |
11 | 83 | |
DIAPH3 | - | - |
GRCh38 GRCh37 |
385 | 488 | |
HNRNPA1L2 | - | - | - |
GRCh38 GRCh37 |
15 | 80 |
INTS6 | - | - |
GRCh38 GRCh37 |
31 | 111 | |
LINC00558 | - | - | - |
GRCh38 GRCh37 |
1 | 64 |
There are 17 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 24, 2018 | RCV000683569.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023