ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3
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 | |||
ABI3 | - | - |
GRCh38 GRCh37 |
27 | 42 | |
ATP5MC1 | - | - |
GRCh38 GRCh37 |
- | 23 | |
B4GALNT2 | - | - |
GRCh38 GRCh37 |
43 | 57 | |
CALCOCO2 | - | - |
GRCh38 GRCh37 |
25 | 39 | |
GIP | - | - |
GRCh38 GRCh37 |
7 | 20 | |
GNGT2 | - | - |
GRCh38 GRCh37 |
4 | 18 | |
HOXB13 | - | - |
GRCh38 GRCh37 |
1697 | 1709 | |
IGF2BP1 | - | - |
GRCh38 GRCh37 |
31 | 44 | |
NGFR | - | - |
GRCh38 GRCh37 |
4 | 52 | |
PHB1 | - | - |
GRCh38 GRCh37 |
11 | 24 |
There are 8 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) |
|
Dec 10, 2021 | RCV002472415.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022