ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
CYLD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
129 | 336 | |
SALL1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
503 | 529 | |
ADCY7 | - | - |
GRCh38 GRCh37 |
63 | 90 | |
AKTIP | - | - |
GRCh38 GRCh37 |
13 | 31 | |
BRD7 | - | - |
GRCh38 GRCh37 |
24 | 54 | |
C16orf78 | - | - | - |
GRCh38 GRCh37 |
4 | 24 |
CASC16 | - | - | - | GRCh38 | - | 8 |
CASC22 | - | - | - | GRCh38 | - | 12 |
CBLN1 | - | - |
GRCh38 GRCh37 |
5 | 24 | |
CHD9 | - | - |
GRCh38 GRCh37 |
128 | 146 |
There are 163 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207292.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024