ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_94153285)_(111965700_?)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 | |||
ATM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10315 | 16611 | |
SDHD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
648 | 786 | |
YAP1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
67 | 92 | |
AASDHPPT | - | - |
GRCh38 GRCh37 |
19 | 45 | |
ACAT1 | - | - |
GRCh38 GRCh37 |
719 | 742 | |
ALG9 | - | - |
GRCh38 GRCh37 |
285 | 332 | |
ALKBH8 | - | - |
GRCh38 GRCh37 |
87 | 106 | |
AMOTL1 | - | - |
GRCh38 GRCh37 |
69 | 89 | |
ANGPTL5 | - | - |
GRCh38 GRCh37 |
19 | 48 | |
ANKRD49 | - | - |
GRCh38 GRCh37 |
- | 35 |
There are 87 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) |
|
Jan 16, 2020 | RCV001389105.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023