ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_171765373)_(172662086_?)del
Germline
Classification
(1)
Pathogenic
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 |
601 | 624 | |
ATP6V0E1 | - | - |
GRCh38 GRCh37 |
- | 26 | |
BNIP1 | - | - |
GRCh38 GRCh37 |
16 | 38 | |
CREBRF | - | - |
GRCh38 GRCh37 |
23 | 46 | |
DUSP1 | - | - |
GRCh38 GRCh37 |
13 | 40 | |
ERGIC1 | - | - |
GRCh38 GRCh37 |
22 | 46 | |
NEURL1B | - | - |
GRCh38 GRCh37 |
44 | 67 | |
RPL26L1 | - | - | - |
GRCh38 GRCh37 |
10 | 34 |
SH3PXD2B | - | - |
GRCh38 GRCh37 |
555 | 576 | |
SNORA74B | - | - |
GRCh38 GRCh37 |
- | 23 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 22, 2023 | RCV004579004.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024