ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_155338082)_(156899968_?)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 | |||
CYFIP2 | - | - |
GRCh38 GRCh37 |
632 | 880 | |
FNDC9 | - | - | - |
GRCh38 GRCh37 |
- | 34 |
GARIN3 | - | - |
GRCh38 GRCh37 |
54 | 73 | |
HAVCR1 | - | - |
GRCh38 GRCh37 |
45 | 63 | |
HAVCR2 | - | - |
GRCh38 GRCh37 |
34 | 53 | |
ITK | - | - |
GRCh38 GRCh37 |
489 | 510 | |
MED7 | - | - |
GRCh38 GRCh37 |
10 | 29 | |
NIPAL4 | - | - |
GRCh38 GRCh37 |
156 | 196 | |
SGCD | - | - |
GRCh38 GRCh37 |
750 | 767 | |
TIMD4 | - | - |
GRCh38 GRCh37 |
22 | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 6, 2022 | RCV003116379.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023