ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1
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 | |||
PRRT2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 896 | |
ALDOA | - | - |
GRCh38 GRCh37 |
1 | 560 | |
ASPHD1 | - | - | - |
GRCh38 GRCh37 |
20 | 313 |
BOLA2 | - | - |
GRCh38 GRCh37 |
- | 87 | |
BOLA2B | - | - | - |
GRCh38 GRCh37 |
- | 98 |
C16orf54 | - | - | - |
GRCh38 GRCh37 |
1 | 275 |
C16orf92 | - | - |
GRCh38 GRCh37 |
2 | 297 | |
CDIPT | - | - |
GRCh38 GRCh37 |
13 | 298 | |
CORO1A | - | - |
GRCh38 GRCh37 |
241 | 473 | |
DOC2A | - | - |
GRCh38 GRCh37 |
31 | 315 |
There are 23 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 18, 2023 | RCV003483288.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024