ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ALG11 | - | - |
GRCh38 GRCh37 |
74 | 267 | |
ARL11 | - | - |
GRCh38 GRCh37 |
16 | 85 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2857 | 2999 | |
CCDC70 | - | - | - |
GRCh38 GRCh37 |
- | 89 |
CKAP2 | - | - |
GRCh38 GRCh37 |
47 | 111 | |
CNMD | - | - |
GRCh38 GRCh37 |
23 | 91 | |
DHRS12 | - | - |
GRCh38 GRCh37 |
16 | 92 | |
DLEU1 | - | - |
GRCh38 GRCh37 |
- | 60 | |
DLEU2 | - | - |
GRCh38 GRCh37 |
- | 93 | |
DLEU7 | - | - |
GRCh38 GRCh37 |
1 | 81 |
There are 21 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV004442840.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024