ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_65821800)_(72146396_?)del
Germline
Classification
(1)
Uncertain significance
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 | |||
CDH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4445 | 4538 | |
CTCF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
266 | 300 | |
ACD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1074 | 1246 | |
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1407 | 1453 | |
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 54 | |
AGRP | - | - |
GRCh38 GRCh37 |
- | 44 | |
AP1G1 | - | - |
GRCh38 GRCh37 |
68 | 109 | |
ATP6V0D1 | - | - |
GRCh38 GRCh37 |
10 | 41 | |
ATXN1L | - | - |
GRCh38 GRCh37 |
58 | 98 | |
B3GNT9 | - | - | - |
GRCh38 GRCh37 |
17 | 57 |
There are 119 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 23, 2022 | RCV003122496.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024