ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3
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 |
555 | 604 | |
CTCF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
273 | 307 | |
CYLD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
151 | 376 | |
ACD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1075 | 1247 | |
GNAO1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
480 | 520 | |
SALL1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
535 | 563 | |
CBFB | No evidence available | No evidence available |
GRCh38 GRCh37 |
13 | 54 | |
ADCY7 | - | - |
GRCh38 GRCh37 |
66 | 94 | |
ADGRG1 | - | - |
GRCh38 GRCh37 |
942 | 970 | |
ADGRG3 | - | - |
GRCh38 GRCh37 |
47 | 74 |
There are 667 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Mar 18, 2014 | RCV000143752.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024