ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
CNOT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
529 | 576 | |
GNAO1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
467 | 505 | |
ADGRG1 | - | - |
GRCh38 GRCh37 |
935 | 962 | |
ADGRG3 | - | - |
GRCh38 GRCh37 |
42 | 68 | |
ADGRG5 | - | - |
GRCh38 GRCh37 |
38 | 66 | |
AMFR | - | - |
GRCh38 GRCh37 |
31 | 63 | |
ARL2BP | - | - |
GRCh38 GRCh37 |
95 | 120 | |
BBS2 | - | - |
GRCh38 GRCh37 |
1088 | 1121 | |
CAPNS2 | - | - |
GRCh38 GRCh37 |
- | 34 | |
CCDC102A | - | - | - |
GRCh38 GRCh37 |
41 | 69 |
There are 236 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 25, 2013 | RCV000133738.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024