ClinVar Genomic variation as it relates to human health
NC_000001.10:g.4481271_20530242del
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 | |||
CAMTA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
588 | 697 | |
SDHB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1298 | 1414 | |
CHD5 | Little evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
238 | 295 | |
CASZ1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
391 | 442 | |
SPEN | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
501 | 534 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1243 | 1349 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
239 | 350 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
18 | 65 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
37 | 85 |
ACOT7 | - | - |
GRCh38 GRCh37 |
26 | 88 |
There are 176 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) |
|
Mar 31, 2020 | RCV003159574.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023