ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_175158654)_(179263593_?)dup
Germline
Classification
(3)
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 | |||
DDX41 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
553 | 621 | |
NSD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1681 | 1795 | |
ADAMTS2 | - | - |
GRCh38 GRCh38 GRCh37 |
1756 | 1811 | |
ARL10 | - | - | - |
GRCh38 GRCh37 |
11 | 86 |
B4GALT7 | - | - |
GRCh38 GRCh37 |
324 | 415 | |
C5orf60 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 42 |
CANX | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 83 | |
CBY3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 60 |
CDHR2 | - | - |
GRCh38 GRCh37 |
91 | 148 | |
CLK4 | - | - |
GRCh38 GRCh37 |
20 | 59 |
There are 55 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 3, 2022 | RCV003154288.8 | |
no classifications from unflagged records (1) |
|
- | RCV003116717.12 | |
no classifications from unflagged records (1) |
|
- | RCV003232857.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 30, 2024