ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_171765373)_(172939426_?)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 | |||
NKX2-5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
597 | 619 | |
ATP6V0E1 | - | - |
GRCh38 GRCh37 |
- | 24 | |
BNIP1 | - | - |
GRCh38 GRCh37 |
16 | 37 | |
CREBRF | - | - |
GRCh38 GRCh37 |
23 | 44 | |
DUSP1 | - | - |
GRCh38 GRCh37 |
13 | 38 | |
ERGIC1 | - | - |
GRCh38 GRCh37 |
22 | 44 | |
NEURL1B | - | - |
GRCh38 GRCh37 |
44 | 65 | |
RPL26L1 | - | - | - |
GRCh38 GRCh37 |
10 | 32 |
SH3PXD2B | - | - |
GRCh38 GRCh37 |
554 | 573 | |
SNORA74B | - | - |
GRCh38 GRCh37 |
- | 21 |
There is 1 more gene 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) |
|
Dec 6, 2023 | RCV003122302.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024