ClinVar Genomic variation as it relates to human health
NC_000021.8:g.(?_34540717)_(35013574_?)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 | |||
SON | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1313 | 1397 | |
DNAJC28 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
22 | 88 |
CRYZL1 | - | - |
GRCh38 GRCh37 |
14 | 83 | |
DONSON | - | - |
GRCh38 GRCh37 |
232 | 300 | |
GART | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 112 | |
IFNAR1 | - | - |
GRCh38 GRCh37 |
255 | 342 | |
IFNAR2 | - | - |
GRCh38 GRCh37 |
3 | 335 | |
IFNGR2 | - | - |
GRCh38 GRCh38 GRCh37 |
137 | 316 | |
IL10RB | - | - |
GRCh38 GRCh37 |
6 | 317 | |
TMEM50B | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 155 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 20, 2021 | RCV001385476.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023