ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3
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 | |||
CNOT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
528 | 575 | |
CYLD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
129 | 336 | |
GNAO1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
467 | 505 | |
SALL1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
503 | 529 | |
ABCC11 | - | - |
GRCh38 GRCh37 |
112 | 134 | |
ABCC12 | - | - |
GRCh38 GRCh37 |
84 | 106 | |
ADCY7 | - | - |
GRCh38 GRCh37 |
63 | 90 | |
ADGRG1 | - | - |
GRCh38 GRCh37 |
935 | 962 | |
ADGRG3 | - | - |
GRCh38 GRCh37 |
42 | 68 | |
ADGRG5 | - | - |
GRCh38 GRCh37 |
38 | 66 |
There are 91 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) |
|
Aug 31, 2021 | RCV002472562.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023