ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_62018111)_(62987152_?)dup
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 | |||
CEP95 | - | - | - |
GRCh38 GRCh37 |
49 | 62 |
DDX5 | - | - |
GRCh38 GRCh37 |
17 | 28 | |
ERN1 | - | - |
GRCh38 GRCh37 |
51 | 65 | |
ICAM2 | - | - |
GRCh38 GRCh37 |
10 | 37 | |
LRRC37A3 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
129 | 141 | |
MILR1 | - | - | - |
GRCh38 GRCh37 |
- | 454 |
PECAM1 | - | - |
GRCh38 GRCh37 |
3 | 15 | |
POLG2 | - | - |
GRCh38 GRCh37 |
6 | 459 | |
PRR29 | - | - | - |
GRCh38 GRCh37 |
14 | 52 |
SCN4A | - | - |
GRCh38 GRCh37 |
731 | 2033 |
There are 2 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) |
|
May 25, 2017 | RCV000542611.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024