ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1
Germline
Classification
(1)
not provided
no classification 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 |
77 | 283 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2907 | 3050 | |
CCDC70 | - | - | - |
GRCh38 GRCh37 |
- | 91 |
CKAP2 | - | - |
GRCh38 GRCh37 |
52 | 116 | |
CNMD | - | - |
GRCh38 GRCh37 |
24 | 92 | |
DHRS12 | - | - |
GRCh38 GRCh37 |
18 | 95 | |
FAM124A | - | - | - |
GRCh38 GRCh37 |
42 | 103 |
HNRNPA1L2 | - | - | - |
GRCh38 GRCh37 |
22 | 88 |
INTS6 | - | - |
GRCh38 GRCh37 |
39 | 130 | |
LINC00558 | - | - | - |
GRCh38 GRCh37 |
1 | 64 |
There are 10 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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV000509218.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023