ClinVar Genomic variation as it relates to human health
NC_000015.9:g.83214012_84812693del1598682
Germline
Classification
(1)
Likely 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 | |||
ADAMTSL3 | - | - |
GRCh38 GRCh38 GRCh37 |
197 | 239 | |
AP3B2 | - | - |
GRCh38 GRCh37 |
13 | 809 | |
BNC1 | - | - |
GRCh38 GRCh37 |
59 | 94 | |
BTBD1 | - | - |
GRCh38 GRCh37 |
18 | 55 | |
C15orf40 | - | - | - |
GRCh38 GRCh37 |
2 | 43 |
CPEB1 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 64 | |
FSD2 | - | - | - |
GRCh38 GRCh37 |
45 | 83 |
HOMER2 | - | - |
GRCh38 GRCh37 |
141 | 176 | |
RAMAC | - | - |
GRCh38 GRCh37 |
- | 41 | |
SCARNA15 | - | - |
GRCh38 GRCh37 |
- | 38 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 1, 2018 | RCV000754462.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023