ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q21.2(chr17:39705863-40358580)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 | |||
ACLY | - | - |
GRCh38 GRCh37 |
60 | 66 | |
CNP | - | - |
GRCh38 GRCh37 |
30 | 41 | |
DHX58 | - | - |
GRCh38 GRCh37 |
64 | 70 | |
DNAJC7 | - | - |
GRCh38 GRCh37 |
23 | 35 | |
EIF1 | - | - |
GRCh38 GRCh37 |
- | 6 | |
FKBP10 | - | - |
GRCh38 GRCh37 |
589 | 596 | |
GAST | - | - |
GRCh38 GRCh37 |
9 | 15 | |
GHDC | - | - |
GRCh38 GRCh37 |
37 | 43 | |
HAP1 | - | - |
GRCh38 GRCh37 |
76 | 82 | |
HCRT | - | - |
GRCh38 GRCh37 |
14 | 20 |
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003987235.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024