ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_17565982)_(20052185_?)del
Germline
Classification
(2)
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 | |||
TBX1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
958 | 1350 | |
ATP6V1E1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
141 | 218 | |
HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
108 | 492 | |
ADA2 | - | - |
GRCh38 GRCh37 |
507 | 588 | |
ARVCF | - | - |
GRCh38 GRCh37 |
176 | 653 | |
BCL2L13 | - | - |
GRCh38 GRCh37 |
41 | 114 | |
BID | - | - |
GRCh38 GRCh37 |
24 | 94 | |
C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 383 |
CDC45 | - | - |
GRCh38 GRCh37 |
287 | 672 | |
CECR2 | - | - |
GRCh38 GRCh37 |
17 | 89 |
There are 27 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 17, 2022 | RCV003107327.4 | |
Pathogenic (1) |
|
Apr 17, 2022 | RCV003122555.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024